Clinical Phenotypes Associated with mtDNA rRNA & tRNA Mutations, Non-LHON

Last update: March 2012

The Top mtDNA Protein Synthesis (rRNA & tRNA) Gene Mutations

Syndromes	Locus	Disease	Allele	RNA	Ho	He		References
CARDIOMYOPATHY
Mitochondrial Myopathy and Cardiomyopathy	MTTL1	MMC	A3260G	tRNA Leu (UUR)	-	+		(163,177)
Mitochondrial Myopathy and Cardiomyopathy	MTTL1	MMC	C3303T	tRNA Leu (UUR)	+	+		(149)
Maternally Inherited Cardiomyopathy	MTTI	MICM	A4300G	tRNA Ile	+	+		(125)
DEAFNESS/ SENSORINEURAL HEARING LOSS
Deafness	MTRNR1	DEAF	C1494T	12S rRNA	+	-		(47)
Deafness	MTRNR1	DEAF	A1555G	12S rRNA	+	-		(151,153,159)
Deafness/Sensorineural Hearing Loss	MTTS1 precursor	SNHL	A7445G	tRNA Ser (UCN) precursor	+	+		(146)
Deafness/Sensorineural Hearing Loss	MTTS1	SNHL	T7511C	tRNA Ser (UCN)	+	+		(84)
DIABETES MELLITUS
Diabetes mellitus and deafness	MTTL1	DM/ DMDF / MIDD / SNHL / FSGS / Cardiac + multi-organ dysfunction	A3243G	tRNA Leu (UUR)	-	+		(130,131,172)
ENCEPHALOMYOPATHY
Encephalomyopathy, MELAS	MTTF	MELAS/ MM & EXIT	G583A	tRNA Phe	-	+		(23,88)
Encephalomyopathy, ataxia, myoclonus, and deafness	MTTV	AMDF	G1606A	tRNA Val	-	+		(101)
Encephalomyopathy, MELAS	MTTL1	MELAS / LS	A3243G	tRNA Leu (UUR)	-	+		(178)
Encephalomyopathy, MELAS	MTTL1	MELAS	C3256T	tRNA Leu (UUR)	-	+		(147,155)
Encephalomyopathy, MELAS	MTTL1	MELAS	T3271C	tRNA Leu (UUR)	-	+		(152,160,174)
Encephalomyopathy, MELAS	MTTL1	MELAS / Myopathy / Deafness + Cognitive Impairment	T3291C	tRNA Leu (UUR)	-	+		(126,139)
Encephalomyopathy, MELAS	MTTQ	MELAS/ encephalopathy	G4332A	tRNA Gln	-	+		(61)
Encephalomyopathy, Leigh syndrome	MTTW	MILS	A5537insT	tRNA Trp	-	+		(110)
Encephalomyopathy	MTTS1	PEM / AMDF / Motor neuron disease-like	C7472insC C7471CC (='7472insC')	tRNA Ser (UCN)	+	+		(89,90,95,137)
Encephalomyopathy, MERRF	MTTK	MERRF	A8344G	tRNA Lys	-	+		(179,181)
Encephalomyopathy, MERRF	MTTK	MERRF	T8356C	tRNA Lys	-	+		(132,166,170)
Encephalomyopathy, MERRF	MTTK	MERRF / MICM? DEAF/ Autism / LS/ Ataxia + Lipomas	G8363A	tRNA Lys	-	+		(109,121)
Encephalomyopathy	MTTG	PEM	T10010C	tRNA Gly	-	+		(103)
Encephalomyopathy, MERRF	MTTH	MERRF-MELAS/ cerebral edema	G12147A	tRNA His	-	+		(42,44)
MITOCHONDRIAL MYOPATHY
Mitochondrial Myopathy	MTTL1	MM/CPEO	A3243G	tRNA Leu (UUR)	-	+		(143,156)
Mitochondrial Myopathy	MTTL1	MM	A3302G	tRNA Leu (UUR)	-	+		(26,150,162)
Mitochondrial Myopathy, CPEO	MTTI	CPEO/MS	G4298A	tRNA Ile	-	+		(100)
Mitochondrial Myopathy, CPEO	MTTI	CPEO	G4308A	tRNA Ile	-	+		(2,3)
Mitochondrial Myopathy	MTTA	Myopathy	G5650A	tRNA Ala	-	+		(16)
Mitochondrial Myopathy, CPEO	MTTN	CPEO/MM	G5703A	tRNA Asn	-	+		(55,107,155)
Mitochondrial Myopathy	MTTS1	MM / EXIT	G7497A	tRNA Ser (UCN)	+	+		(35,50,90)
Mitochondrial Myopathy, CPEO	MTTL2	CPEO / KSS	G12315A	tRNA Leu (CUN)	-	+		(117)
Mitochondrial Myopathy	MTTE	Reversible COX deficiency myopathy	T14674C	tRNA Glu	+	-		(7,12)
Mitochondrial Myopathy	MTTE	MM+DM / Encephalomyopathy	T14709C	tRNA Glu	+	+		(127,128)

 

Representative Reported Pathogenic Protein Synthesis Mutations for various phenotypic presentations selected from over 275 reported variants see Mitomap table for additional reports.

Syndromes	Locus	Disease	Allele	RNA	Ho	He	Status	References
ENCEPHALOMYOPATHY
EncephaloMyopathy, Leigh Syndrome	MTTV	LS	C1624T	tRNA Val	+	-	Rep	(57)
EncephaloMyopathy, Leigh Syndrome	MTTV	Adult LS	G1644T	tRNA Val	-	+	Rep	(104)
Encephalomyopathy Leigh Syndrome	MTTW	MILS	A5537insT	tRNA Trp	-	+	Rep	(110)
Encephalomyopathy MERRF	MTTF	MERRF	G611A	tRNA Phe	-	+	Rep	(40)
Encephalomyopathy MERRF	MTTK	MERRF	G8361A	tRNA Lys	-	+	Rep	(53)
Encephalomyopathy MERRF	MTTK	MERRF/MICM+ DEAF/ Autism	G8363A	tRNA Lys	-	+	Rep	(109,121)
Encephalomyopathy MERRF	MTTL1	MERRF/KSS overlap	G3255A	tRNA Leu (UUR)	-	+	Rep	(51)
Encephalomyopathy Myoclonus and Psychomotor Regression	MTTD	MEPR	A7543G	tRNA Asp	-	+	Rep	(83)
Encephalomyopathy Ataxia, Myoclonus and Deafness	MTTV	AMDF	G1606A	tRNA Val	-	+	Rep	(101)
Encephalomyopathy MELAS	MTTL1	MELAS	G3244A	tRNA Leu (UUR)	-	+	Rep	(33)
Encephalomyopathy MELAS	MTTL1	MELAS	A3252G	tRNA Leu (UUR)	-	+	Rep	(126,157)
Encephalomyopathy MELAS	MTTL1	MELAS/Myopathy	T3258C	tRNA Leu (UUR)	-	+	Rep	(68)
Encephalomyopathy MELAS	MTTL1	MELAS	T3291C	tRNA Leu (UUR)	-	+	Rep	(126,139)
Encephalomyopathy MELAS	MTTV	MELAS	G1642A	tRNA Val	-	+	Rep	(86)
Encephalomyopathy MELAS	MTTF	MELAS	G583A	tRNA Phe	-	+	Rep	(88)
Encephalomyopathy MELAS	MTRNR2	MELAS	C3093G	16S rRNA	-	+	Rep	(65)
Encephalomyopathy	MTTL1	PEM	T3271delT	tRNA Leu (UUR)	-	+	Rep	(136)
Encephalopathy	MTTL1	Encephalomyopathy	C3287A	tRNA Leu (UUR)	-	+	Rep	(31)
Encephalomyopathy	MTTI	Progressive Encephalopathy	T4290C	tRNA Ile	+	+	Rep	(39)
Encephalomyopathy	MTTI	Mitochondrial Encephalocardiomyopathy	C4320T	tRNA Ile	-	+	Rep	(135)
Encephalomyopathy	MTTW	Encephalomyopathy	G5540A	tRNA Trp	-	+	Rep	(77)
Encephalomyopathy	MTTN	Encephalomyopathy	T5693C	tRNA Asn	+	-	Rep	(32)
Encephalomyopathy	MTTC	Encephalopathy	T5814C	tRNA Cys	-	+	Rep	(98,118)
Encephalomyopathy	MTTC	Progressive Dystonia	A5816G	tRNA Cys	+	-	Rep	(18,19)
Encephalomyopathy	MTTS1	PEM/MERME	T7512C	tRNA Ser (UCN)	+	+	Rep	(89,90,133)
Encephalomyopathy	MTTK	Mitochondrial Encephalopathy	G8328A	tRNA Lys	-	+	Rep	(82)
Encephalomyopathy	MTTK	Dystonia and stroke-like episodes	A8332G	tRNA Lys	+	-	Rep	(6)
Encephalomyopathy	MTTG	PEM	T10010C	tRNA Gly	-	+	Rep	(103)
Encephalopathy	MTTR	Progressive Encephalopathy	A10438G	tRNA Arg	-	+	Rep	(45)
Encephalopathy	MTTE	Mitochondrial Encephalomyopathy	C14680A	tRNA Glu	-	+	Rep	(20)
Encephalopathy	MTTE	Progressive Encephalopathy	A14696G	tRNA Glu	-	+	Rep	(45)
Encephalopathy	MTTE	Mitochondrial Leukoencephalopathy	G14724A	tRNA Glu	-	+	Rep	(22)
Encephalopathy	MTTE	Encephalomyopathy + Retinopathy	G14740A	tRNA Glu	-	+	Rep	(8,31,69)
Encephalomyopathy	MTATT	Encephalomyopathy	G15915A	tRNA Thr	-	+	Rep	(111,120)
Encephalopathy	MTTP	MERRF-like disease	G15967A	tRNA Pro	-	+	Rep	(10)
Encephalopathy	MTTP	Ataxia+RP+deafness	C15975T	tRNA Pro	-	+	Rep	(11)
Encephalomyopathy Rett Syndrome	MTRNR2	Rett Syndrome	C2835T	rRNA 16S	-	+	Rep	(79,113)
Multisystem Disease	MTTI	Varied familial presentation	G4284A	tRNA Ile	-	+	Rep	(56)
Encephalomyopathy Gastrointestinal Reflux and Sudden Infant Death Syndrome	MTTG	GER/SIDS	A10044G	tRNA Gly	-	+	Rep	(122)
MITOCHONDRIAL MYOPATHY
Mitochondrial Myopathy	MTTF	MM	T582C	tRNA Phe	-	+	Rep	(43)
Mitochondrial Myopathy	MTTF	MM	T618C	tRNA Phe	-	+	Rep	(93)
Mitochondrial Myopathy	MTTF	EXIT & Deafness	G622A	tRNA Phe	-	+	Rep	(24)
Mitochondrial Myopathy	MTTF	Ataxia, PEO, deafness	T642C	tRNA Phe	-	+	Rep	(13)
Mitochondrial Myopathy	MTTL1	MM	G3242A	tRNA Leu (UUR)	+	-	Rep	(33)
Mitochondrial Myopathy	MTTL1	MM/CPEO	T3250C	tRNA Leu (UUR)	-	+	Rep	(80,168)
Mitochondrial Myopathy	MTTL1	MM	A3251G	tRNA Leu (UUR)	-	+	Rep	(164)
Mitochondrial Myopathy	MTTL1	MM	C3254G	tRNA Leu (UUR)	-	+	Rep	(108)
Mitochondrial Myopathy	MTTL1	Myopathy	A3280G	tRNA Leu (UUR)	-	+	Rep	(68)
Mitochondrial Myopathy	MTTL1	Myopathy	A3288G	TRNA Leu(UUR)	-	+	Rep	(81)
Mitochondrial Myopathy	MTTI	MM	A4267G	tRNA Ile	-	+	Rep	(58)
Mitochondrial Myopathy	MTTI	CPEO	A4302G	tRNA Ile	-	+	Rep	(5)
Mitochondrial Myopathy	MTTQ	Myopathy	T4370AT	tRNA Gln	-	+	Rep	(72)
Mitochondrial Myopathy	MTTM	MM	T4409C	tRNA Met	-	+	Rep	(102)
Mitochondrial Myopathy	MTTM	MM	G4450A	tRNA Met	-	+	Rep	(98)
Mitochondrial Myopathy	MTTW	MM	G5521A	tRNA Trp	-	+	Rep	(97)
Mitochondrial Myopathy	MTTW	MM	T5543C	tRNA Trp	-	+	Rep	(69)
Mitochondrial Myopathy	MTTW	MM	T5543C	tRNA Trp	-	+	Rep	(31)
Mitochondrial Myopathy	MTTW	Myopathy	T5567C	tRNA Trp	-	+	Rep	(13)
Mitochondrial Myopathy	MTTA	Myopathy	G5591A	tRNA Ala	-	+	Rep	(29)
Mitochondrial Myopathy	MTTA	PEO	T5636C	tRNA Ala	-	+	Rep	(1)
Mitochondrial Myopathy	MTTS1	PEO	G7458A	tRNA Ser (UCN)	-	+	Rep	(9)
Mitochondrial Myopathy	MTTS1	MM	T7480G	tRNA Ser (UCN)	-	+	Rep	(37)
Mitochondrial Myopathy	MTTS1	MM	G7497A	tRNA Ser (UCN)	+	+	Rep	(90)
Mitochondrial Myopathy	MTTD	Mitochondrial Myopathy	A7526G	tRNA Asp	-	+	Rep	(36)
Mitochondrial Myopathy	MTTK	Myopathy	T8355C	tRNA Lys	-	+	Rep	(68)
Mitochondrial Myopathy	MTTK	Myopathy	T8362G	tRNA Lys	-	+	Rep	(68)
Mitochondrial Myopathy	MTTR	Mitochondrial Myopathy	G10406A	tRNA Arg	-	+	Rep	(21)
Mitochondrial Myopathy	MTTL2	CPEO	G12316A	tRNA Leu (CUN)	-	+	Rep	(14)
Mitochondrial Myopathy	MTTL2	MM	A12320G	tRNA Leu (CUN)	-	+	Rep	(116)
Mitochondrial Myopathy	MTTE	Reversible COX deficiency myopathy	T14674G	tRNA Glu	+	-	Rep	(7)
Mitochondrial Myopathy	MTTE	Mitochondrial myopathy w respiratory failure	A14687G	tRNA Glu	+	-	Rep	(48)
Mitochondrial Myopathy	MTTE	CPEO + Myopathy	T14723C	tRNA Glu	-	+	Rep	(4)
Mitochondrial Myopathy	MTTE	EXIT	G14739A	tRNA Glu	-	+	Rep	(27)
Mitochondrial Myopathy	MTTT	MM	T15940delT	tRNA Thr	+	-	Rep	(96)
Mitochondrial Myopathy	MTTP	MM	C15990T	tRNA Pro	-	+	Rep	(142,154)
Mitochondrial Myopathy	MTTP	Mitochondrial cytopathy	T16002C	tRNA Pro	-	+	Rep	(75)
Mitochondrial Myopathy / Encephalopathy	MTTS2	Myopathy / Encephalopathy	G12207A	tRNA Ser (AGY)	-	+	Rep	(30,60)
Mitochondrial Myopathy and Cardiomyopathy	MTTL1	MMC	C3303T	tRNA Leu (UUR)	+	+	Rep	(149)
Mitochondrial Myopathy Cytopathy	MTTY	Mitochondrial Cytopathy/ FSGS	A5843G	tRNA Tyr	+	-	Rep	(54)
Mitochondrial Myopathy Cytopathy	MTTK	Mitochondrial cytopathy	A8326G	tRNA Lys	-	+	Rep	(59)
Mitochondrial Myopathy Cytopathy	MTTP	Mitochondrial cytopathy	G15995A	tRNA Pro	-	+	Rep	(59)
Mitochondrial Myopathy Lethal Infantile Mitochondrial Myopathy	MTTT	LIMM	A15923G	tRNA Thr	nd	-	Rep	(165,167,176)
Mitochondrial Myopathy Mitochondrial Neurogastrointestinal Encephalomyopathy	MTTK	MNGIE	G8313A	tRNA Lys	-	+	Rep	(115)
Mitochondrial Myopathy with Chronic Intestinal Pseudo-obstruction	MTTG	CIPO	A10006G	tRNA Gly	nd	nd	Rep	(158,175)
Mitochondrial Myopathy with Chronic Intestinal Pseudo-obstruction	MTTS2	CIPO	C12246G	tRNA Ser (AGY)	nd	nd	Rep	(158,175)
Mitochondrial Myopathy with Myoglobinuria	MTTF	Myoglobinuria	A606G	TRNA Phe	-	+	Rep	(106)
Mitochondrial Myopathy with Renal Dysfunction	MTTF	Tubulo-interstitial nephritis	A608G	tRNA Phe	+	-	Rep	(71)
Mitochondrial Myopathy, CPEO	MTTL1	CPEO	C3254T	tRNA Leu (UUR)	+	-	Rep	(33)
Mitochondrial Myopathy, CPEO	MTTI	CPEO	T4274C	tRNA Ile	-	+	Rep	(105)
Mitochondrial Myopathy, CPEO	MTTI	CPEO	T4285C	tRNA Ile	-	+	Rep	(123)
Mitochondrial Myopathy, CPEO	MTTI	CPEO/MS	G4298A	tRNA Ile	-	+	Rep	(100)
Mitochondrial Myopathy, CPEO	MTTI	CPEO	G4309A	tRNA Ile	-	+	Rep	(87)
Mitochondrial Myopathy, CPEO	MTTA	CPEO	T5628C	tRNA Ala	-	+	Rep	(67)
Mitochondrial Myopathy, CPEO	MTTN	CPEO/MM	T5692C	tRNA Asn	-	+	Rep	(68,148,158)
Mitochondrial Myopathy, CPEO	MTTN	CPEO/MM	G5698A	tRNA Asn	-	+	Rep	(68)
Mitochondrial Myopathy, CPEO	MTTN	CPEO/MM	G5703G	tRNA Asn	-	+	Rep	(107,155)
Mitochondrial Myopathy, CPEO	MTTK	CPEO + Myoclonus	G8342A	tRNA Lys	-	+	Rep	(85)
Mitochondrial Myopathy, CPEO	MTTL2	CPEO	G12294A	tRNA Leu (CUN)	-	+	Rep	(52)
Mitochondrial Myopathy, CPEO	MTTL2	CPEO	T12311C	tRNA Leu (CUN)	+	+	Rep	(140,147)
Mitochondrial Myopathy, CPEO	MTTL2	CPEO	G12315A	tRNA Leu (CUN)	-	+	Rep	(117)
Mitochondrial Myopathy, Exercise Intolerance	MTTY	Exercise Intolerance	T15940G	tRNA Tyr	-	+	Rep	(74)
Mitochondrial Myopathy, Gastrointestinal Syndrome	MTTW	Gastrointestinal Syndrome	G5532A	tRNA Trp	-	+	Rep	(41)
Mitochondrial Myopathy, KSS	MTTL1	KSS	G3249A	tRNA Leu (UUR)	-	+	Rep	(66)
Mitochondrial Myopathy, Ocular Myopathy	MTTL1	Ocular myopathy	T3273C	tRNA Leu (UUR)	-	+	Rep	(62)
CARDIOMYOPATHY
Maternally Inherited Hypertrophic Cardiomyopathy	MTTI	MHCM	A4295G	tRNA Ile	-	+	Rep	(119)
Maternally Inherited Cardiomyopathy	MTTI	MICM	A4300G	tRNA Ile	-	+	Rep	(125)
Cardiomyopathy	MTTW	HCM, severe multisystem disorder	C5545T	tRNA Trp	-	+	Rep	(17)
Cardiomyopathy	MTTK	Cardiomyopathy	A8348G	tRNA Lys	-	+	Rep	(70)
Maternally Inherited Hypertrophic Cardiomyopathy	MTTG	MHCM	T9997C	tRNA Gly	nd	+	Rep	(145)
Maternally Inherited Cardiomyopathy	MTTH	MICM	G12192A	tRNA His	+	-	Rep	(76)
Cardiomyopathy	MTTL2	Dilated Cardiomyopathy	T12297C	tRNA Leu (CUN)	-	+	Rep	(64)
Fatal Infantile Cardiomyopathy Plus (MELAS)	MTTI	FICP	A4269G	tRNA Ile	-	+	Rep	(141,171)
Fatal Infantile Cardiomyopathy Plus (MELAS)	MTTI	FICP	A4317G	tRNA Ile	nd	nd	Rep	(169,180)
DEAFNESS
Deafness	MTTF	DEAF	A636G	tRNA Phe	+	-	Rep	(15)
Deafness	MTRNR1	DEAF	A827G	12S rRNA	+	-	Rep	(34)
Deafness	MTRNR1	DEAF	T961C	12S rRNA	+	-	Rep	(34)
Deafness	MTRNR1	DEAF	T961delT+C(n)ins	12S rRNA	+	+	Rep	(124)
Deafness	MTRNR1	DEAF	T961insC	12S rRNA	+	-	Rep	(124)
Deafness	MTRNR1	DEAF	T1005C	12S rRNA	+	-	Rep	(34)
Deafness	MTRNR1	DEAF	A1116G	12S rRNA	+	-	Rep	(34)
Deafness	MTRNR1	DEAF	C1494T	12S rRNA	+	-	Rep	(47)
Deafness	MTTC	Myopathy, deafness	G5783A	tRNA Cys	-	+	Rep	(25)
Deafness; Sensory Neural Hearing Loss	MTTS1	SNHL	T7510C	tRNA Ser (UCN)	-	+	Rep	(73)
Deafness; Sensory Neural Hearing Loss	MTTS1	SNHL	T7511C	tRNA Ser(UCN)	+	+	Rep	(84)
Deafness; cerebellar dysfunction	MTTS1	Deafness and Cerebellar Dysfunction	7472insC	tRNA Ser(UCN)	-	+	Rep	(137)
Deafness	MTTH	DEAF + RP	G12183A	tRNA His	-	+	Rep	(49)
Deafness; Ataxia and MR	MTTE	Deafness, Mental Retardation, Cerebellar Dysfunction	T14709C	tRNA Glu	-	+	Rep	(127)
DIABETES MELLITUS
Diabetes Mellitus	MTRNR1	DM	C1310T	12S	+	-	Rep	(99)
Diabetes Mellitus	MTRNR1	DM	A1438G	12S	+	-	Rep	(99)
Diabetes Mellitus	MTTL1	DM	T3264C	tRNALeu (UUR)	-	+	Rep	(112)
Diabetes Mellitus	MTTL1	DM	T3271C	tRNA Leu (UUR)	-	+	Rep	(114)
Diabetes Mellitus; Metabolic Syndrome	MTTI	Metabolic Syndrome & Hypomagnesemia	T4291C	tRNA Ile	+	-	Rep	(46)
Diabetes Mellitus & Deafness & Cardiomyopathy	MTTK	DMDF/MERRF/HCM	A8296G	tRNA Lys	-	+	Rep	(78,91,92)
Diabetes Mellitus & Deafness	MTTS2	DMDF	C12258A	tRNA Ser (AGY)		+	Rep	(94)
OTHER
Movement Disorder	MTTV	Movement Disorder	T1659C	tRNA Val	-	+	Rep	(38)
Alzheimer & Parkinson Disease	MTRNR2	ADPD	G3196A	rRNA 16S	+	+	Rep	(161,173)
Alzheimer & Parkinson Disease; Deafness & Migraine	MTTQ	ADPD/Hearing loss and migraine	T4336C	tRNA Gln	+	_	Rep	(63,129,138,144,161,173)
Dementia and Chorea	MTTW	DEMCHO	G5549A	tRNA Trp	-	+	Rep	(134)
Multi-organ Failure	MTTN	Multi-organ failure	T5728C	tRNA Asn	-	+	Rep	(28)

Abbreviations ADPD = Alzheimer's Disease and Parkinson Disease; AMDF = Ataxia, Myopathy, and DeaFness; CPEO = Chronic Progressive Ophthalmoplegia; DEAF/SNHL = Deafness/Sensorineural Hearing Loss; DEMCHO: Dementia and Chorea; DM = Diabetes Mellitus; DMDF = Diabetes Mellitus and Deafness; FSGS = Focal Segmental Glomerulosclerosis; GER = Gastrointestinal Reflux; MERRF = Myoclonic Epilepsy and Ragged Red Fiber disease; MELAS = Mitochondrial Encephalomyopathy, Lactic acidosis and Stroke-like episodes; MICM = Maternally Inherited Cardiomyopathy; MIDD = Maternally Inherited Diabetes and Deafness; MILS = Maternally Inherited Leigh Syndrome; MMC = Mitochondrial Myopathy and Cardiomyopathy; MNGIE = Mitochondrial NeuroGastroIntestinal Encephalopathy; PEM = Progressive Encephalomyopathy; RP = Retinitis Pigmentosa; SIDS: Sudden Infant Death Syndrome; SNHL = Sensorineural Hearing Loss.

References

1. Pinos, T., Marotta, M., Gallardo, E., Illa, I., Diaz-Manera, J., Gonzalez-Vioque, E., Garcia-Arumi, E., Andreu, A. L. and Marti, R. (2011). "A novel mutation in the mitochondrial tRNA(Ala) gene (m.5636T>C) in a patient with progressive external ophthalmoplegia". Mitochondrion 11(1):228-233.

2. Schaller, A., Desetty, R., Hahn, D., Jackson, C. B., Nuoffer, J. M., Gallati, S. and Levinger, L. (2011). "Impairment of mitochondrial tRNA(Ile) processing by a novel mutation associated with chronic progressive external ophthalmoplegia". Mitochondrion 11(3):488-496.

3. Souilem, S., Chebel, S., Mancuso, M., Petrozzi, L., Siciliano, G., FrihAyed, M., Hentati, F. and Amouri, R. (2011). "A novel mitochondrial tRNA(Ile) point mutation associated with chronic progressive external ophthalmoplegia and hyperCKemia". Journal of the Neurological Sciences 300(1-2):187-190.

4. Alston, C. L., Lowe, J., Turnbull, D. M., Maddison, P. and Taylor, R. W. (2010). "A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle". Journal of the Neurological Sciences 298(1-2):140-144.

5. Berardo, A., Coku, J., Kurt, B., DiMauro, S. and Hirano, M. (2010). "A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO)". Neuromuscular Disorders 20(3):204-206.

6. Gal, A., Pentelenyi, K., Remenyi, V., Pal, Z., Csanyi, B., Tomory, G., Rasko, I. and Molnar, M. J. (2010). "Novel heteroplasmic mutation in the anticodon stem of mitochondrial tRNA(Lys) associated with dystonia and stroke- like episodes". Acta Neurologica Scandinavica 122(4):252-256.

7. Mimaki, M., Hatakeyama, H., Komaki, H., Yokoyama, M., Arai, H., Kirino, Y., Suzuki, T., Nishino, I., Nonaka, I. and Goto, Y. (2010). "Reversible infantile respiratory chain deficiency: a clinical and molecular study". Annals of Neurology 68(6):845-854.

8. Nishigaki, Y., Ueno, H., Coku, J., Koga, Y., Fujii, T., Sahashi, K., Nakano, K., Yoneda, M., Nonaka, M., Tang, L., Liou, C. W., Paquis-Flucklinger, V., Harigaya, Y., Ibi, T., Goto, Y., Hosoya, H., DiMauro, S., Hirano, M. and Tanaka, M. (2010). "Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations". Mitochondrion 10(3):300-308.

9. Souilem, S., Kefi, M., Mancuso, M., Nesti, C., Hentati, F. and Amouri, R. (2010). "A novel heteroplasmic tRNA Ser(UCN) mtDNA point mutation associated with progressive ophthalmoplegia and dysphagia". Diagnostic Molecular Pathology 19(1):28-32.

10. Blakely, E. L., Trip, S. A., Swalwell, H., He, L., Wren, D. R., Rich, P., Turnbull, D. M., Omer, S. E. and Taylor, R. W. (2009). "A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features". Archives of Neurology 66(3):399-402.

11. Da Pozzo, P., Cardaioli, E., Malfatti, E., Gallus, G. N., Malandrini, A., Gaudiano, C., Berti, G., Invernizzi, F., Zeviani, M. and Federico, A. (2009). "A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency". European Journal of Human Genetics 17(8):1092- 1096.

12. Horvath, R., Kemp, J. P., Tuppen, H. A., Hudson, G., Oldfors, A., et al. (2009). "Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy". Brain 132(Pt 11):3165-3174.

13. Valente, L., Piga, D., Lamantea, E., Carrara, F., Uziel, G., Cudia, P., Zani, A., Farina, L., Morandi, L., Mora, M., Spinazzola, A., Zeviani, M. and Tiranti, V. (2009). "Identification of novel mutations in five patients with mitochondrial encephalomyopathy". Biochimica et Biophysica Acta 1787(5):491-501.

14. Cardaioli, E., Da Pozzo, P., Malfatti, E., Gallus, G. N., Rubegni, A., Malandrini, A., Gaudiano, C., Guidi, L., Serni, G., Berti, G., Dotti, M. T. and Federico, A. (2008). "Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA". Journal of the Neurological Sciences 272(1-2):106-109.

15. Konings, A., Van Camp, G., Goethals, A., Van Eyken, E., Vandevelde, A., Ben Azza, J., Peeters, N., Wuyts, W., Smeets, H. and Van Laer, L. (2008). "Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients". Mitochondrion 8(5-6):377-382.

16. McFarland, R., Swalwell, H., Blakely, E. L., He, L., Groen, E. J., Turnbull, D. M., Bushby, K. M. and Taylor, R. W. (2008). "The m.5650G>A mitochondrial tRNA(Ala) mutation is pathogenic and causes a phenotype of pure myopathy". Neuromuscular Disorders 18(1):63-67.

17. Sacconi, S., Salviati, L., Nishigaki, Y., Walker, W. F., Hernandez-Rosa, E., Trevisson, E., Delplace, S., Desnuelle, C., Shanske, S., Hirano, M., Schon, E. A., Bonilla, E., De Vivo, D. C., DiMauro, S. and Davidson, M. M. (2008). "A functionally dominant mitochondrial DNA mutation". Human Molecular Genetics 17(12):1814-1820.

18. Schaefer, A. M., McFarland, R., Blakely, E. L., He, L., Whittaker, R. G., Taylor, R. W., Chinnery, P. F. and Turnbull, D. M. (2008). "Prevalence of mitochondrial DNA disease in adults". Annals of Neurology 63(1):35- 39.

19. McFarland, R., Chinnery, P. F., Blakely, E. L., Schaefer, A. M., Morris, A. A., Foster, S. M., Tuppen, H. A., Ramesh, V., Dorman, P. J., Turnbull, D. M. and Taylor, R. W. (2007). "Homoplasmy, heteroplasmy, and mitochondrial dystonia". Neurology 69(9):911-916.

20. Pancrudo, J., Shanske, S., Bonilla, E., Daras, M., Akman, H. O., Krishna, S., Malkin, E. and DiMauro, S. (2007). "Mitochondrial encephalomyopathy due to a novel mutation in the tRNAGlu of mitochondrial DNA". Journal of Child Neurology 22(7):858-862.

21. Pancrudo, J., Shanske, S., Coku, J., Lu, J., Mardach, R., Akman, O., Krishna, S., Bonilla, E. and DiMauro, S. (2007). "Mitochondrial myopathy associated with a novel mutation in mtDNA". Neuromuscular Disorders 17(8):651-654.

22. Pereira, C., Nogueira, C., Barbot, C., Tessa, A., Soares, C., Fattori, F., Guimaraes, A., Santorelli, F. M. and Vilarinho, L. (2007). "Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy". Biochemical and Biophysical Research Communications 354(4):937-941.

23. Darin, N., Kollberg, G., Moslemi, A. R., Tulinius, M., Holme, E., Gronlund, M. A., Andersson, S. and Oldfors, A. (2006). "Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe) gene". Neuromuscular Disorders 16(8):504-506.

24. Deschauer, M., Swalwell, H., Strauss, M., Zierz, S. and Taylor, R. W. (2006). "Novel mitochondrial transfer RNA(Phe) gene mutation associated with late-onset neuromuscular disease". Archives of Neurology 63(6):902-905.

25. Feigenbaum, A., Bai, R. K., Doherty, E. S., Kwon, H., Tan, D., Sloane, A., Cutz, E., Robinson, B. H. and Wong, L. J. (2006). "Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness". American Journal of Medical Genetics. Part A 140(20):2216-2222.

26. Maniura-Weber, K., Helm, M., Engemann, K., Eckertz, S., Mollers, M., Schauen, M., Hayrapetyan, A., von Kleist-Retzow, J. C., Lightowlers, R. N., Bindoff, L. A. and Wiesner, R. J. (2006). "Molecular dysfunction associated with the human mitochondrial 3302A>G mutation in the MTTL1 (mt-tRNALeu(UUR)) gene". Nucleic Acids Research 34(22):6404-6415.

27. Mayr, J. A., Moslemi, A. R., Forster, H., Kamper, A., Idriceanu, C., Muss, W., Huemer, M., Oldfors, A. and Sperl, W. (2006). "A novel sporadic mutation G14739A of the mitochondrial tRNA(Glu) in a girl with exercise intolerance". Neuromuscular Disorders 16(12):874-877.

28. Meulemans, A., Seneca, S., Lagae, L., Lissens, W., De Paepe, B., Smet, J., Van Coster, R. and De Meirleir, L. (2006). "A novel mitochondrial transfer RNA(Asn) mutation causing multiorgan failure". Archives of Neurology 63(8):1194-1198.

29. Swalwell, H., Deschauer, M., Hartl, H., Strauss, M., Turnbull, D. M., Zierz, S. and Taylor, R. W. (2006). "Pure myopathy associated with a novel mitochondrial tRNA gene mutation". Neurology 66(3):447-449.

30. Wong, L. J., Yim, D., Bai, R. K., Kwon, H., Vacek, M. M., Zane, J., Hoppel, C. L. and Kerr, D. S. (2006). "A novel mutation in the mitochondrial tRNA(Ser(AGY)) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency". Journal of Medical Genetics 43(9):e46.

31. Anitori, R., Manning, K., Quan, F., Weleber, R. G., Buist, N. R., Shoubridge, E. A. and Kennaway, N. G. (2005). "Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes". Molecular Genetics and Metabolism 84(2):176-188.

32. Coulbault, L., Herlicoviez, D., Chapon, F., Read, M. H., Penniello, M. J., Reynier, P., Fayet, G., Lombes, A., Jauzac, P. and Allouche, S. (2005). "A novel mutation in the mitochondrial tRNA Asn gene associated with a lethal disease". Biochemical and Biophysical Research Communications 329(3):1152-1154.

33. Kirino, Y., Goto, Y. I., Campos, Y., Arenas, J. and Suzuki, T. (2005). "Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease". Proceedings of the National Academy of Sciences of the United States of America 102(20):7127- 7132.

34. Li, Z., Li, R., Chen, J., Liao, Z., Zhu, Y., Qian, Y., Xiong, S., Heman-Ackah, S., Wu, J., Choo, D. I. and Guan, M. X. (2005). "Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss". Human Genetics 117(1):9-15.

35. Mollers, M., Maniura-Weber, K., Kiseljakovic, E., Bust, M., Hayrapetyan, A., Jaksch, M., Helm, M., Wiesner, R. J. and von Kleist-Retzow, J. C. (2005). "A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNASer(UCN) caused by T7512C and G7497A point mutations". Nucleic Acids Research 33(17):5647- 5658.

36. Seneca, S., Goemans, N., Van Coster, R., Givron, P., Reybrouck, T., Sciot, R., Meulemans, A., Smet, J. and Van Hove, J. L. (2005). "A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy". American Journal of Medical Genetics 137(2):170-175.

37. Bidooki, S., Jackson, M. J., Johnson, M. A., Chrzanowska-Lightowlers, Z. M., Taylor, R. W., Venables, G., Lightowlers, R. N., Turnbull, D. M. and Bindoff, L. A. (2004). "Sporadic mitochondrial myopathy due to a new mutation in the mitochondrial tRNASer(UCN) gene". Neuromuscular Disorders 14(7):417-420.

38. Blakely, E. L., Poulton, J., Pike, M., Wojnarowska, F., Turnbull, D. M., McFarland, R. and Taylor, R. W. (2004). "Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation". Journal of the Neurological Sciences 225(1-2):99-103.

39. Limongelli, A., Schaefer, J., Jackson, S., Invernizzi, F., Kirino, Y., Suzuki, T., Reichmann, H. and Zeviani, M. (2004). "Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome". Journal of Medical Genetics 41(5):342-349.

40. Mancuso, M., Filosto, M., Mootha, V. K., Rocchi, A., Pistolesi, S., Murri, L., DiMauro, S. and Siciliano, G. (2004). "A novel mitochondrial tRNAPhe mutation causes MERRF syndrome". Neurology 62(11):2119-2121.

41. Maniura-Weber, K., Taylor, R. W., Johnson, M. A., Chrzanowska-Lightowlers, Z., Morris, A. A., Charlton, C. P., Turnbull, D. M. and Bindoff, L. A. (2004). "A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome". European Journal of Human Genetics 12(6):509-512.

42. Melone, M. A., Tessa, A., Petrini, S., Lus, G., Sampaolo, S., di Fede, G., Santorelli, F. M. and Cotrufo, R. (2004). "Revelation of a new mitochondrial DNA mutation(G12147A) in a MELAS/MERFF phenotype". Archives of Neurology 61(2):269-272.

43. Moslemi, A. R., Lindberg, C., Toft, J., Holme, E., Kollberg, G. and Oldfors, A. (2004). "A novel mutation in the mitochondrial tRNA(Phe) gene associated with mitochondrial myopathy". Neuromuscular Disorders 14(1):46-50.

44. Taylor, R. W., Schaefer, A. M., McDonnell, M. T., Petty, R. K., Thomas, A. M., Blakely, E. L., Hayes, C. M., McFarland, R. and Turnbull, D. M. (2004). "Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene". Neurology 62(8):1420-1423.

45. Uusimaa, J., Finnila, S., Remes, A. M., Rantala, H., Vainionpaa, L., Hassinen, I. E. and Majamaa, K. (2004). "Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes". Pediatrics 114(2):443-450.

46. Wilson, F. H., Hariri, A., Farhi, A., Zhao, H., Petersen, K. F., Toka, H. R., Nelson-Williams, C., Raja, K. M., Kashgarian, M., Shulman, G. I., Scheinman, S. J. and Lifton, R. P. (2004). "A cluster of metabolic defects caused by mutation in a mitochondrial tRNA". Science 306(5699):1190-1194.

47. Zhao, H., Li, R., Wang, Q., Yan, Q., Deng, J. H., Han, D., Bai, Y., Young, W. Y. and Guan, M. X. (2004). "Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family". American Journal of Human Genetics 74(1):139-152.

48. Bruno, C., Sacco, O., Santorelli, F. M., Assereto, S., Tonoli, E., Bado, M., Rossi, G. A. and Minetti, C. (2003). "Mitochondrial myopathy and respiratory failure associated with a new mutation in the mitochondrial transfer ribonucleic acid glutamic acid gene". Journal of Child Neurology 18(4):300-303.

49. Crimi, M., Galbiati, S., Perini, M. P., Bordoni, A., Malferrari, G., Sciacco, M., Biunno, I., Strazzer, S., Moggio, M., Bresolin, N. and Comi, G. P. (2003). "A mitochondrial tRNA(His) gene mutation causing pigmentary retinopathy and neurosensorial deafness". Neurology 60(7):1200- 1203.

50. Grafakou, O., Hol, F. A., Otfried Schwab, K., Siers, M. H., ter Laak, H., Trijbels, F., Ensenauer, R., Boelen, C. and Smeitink, J. (2003). "Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene". Journal of Inherited Metabolic Disease 26(6):593-600.

51. Nishigaki, Y., Tadesse, S., Bonilla, E., Shungu, D., Hersh, S., Keats, B. J., Berlin, C. I., Goldberg, M. F., Vockley, J., DiMauro, S. and Hirano, M. (2003). "A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome". Neuromuscular Disorders 13(4):334-340.

52. Pulkes, T., Liolitsa, D., Nelson, I. P. and Hanna, M. G. (2003). "Classical mitochondrial phenotypes without mtDNA mutations: The possible role of nuclear genes". Neurology 61(8):1144- 1147.

53. Rossmanith, W., Raffelsberger, T., Roka, J., Kornek, B., Feucht, M. and Bittner, R. E. (2003). "The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNALys gene". Annals of Neurology 54(6):820\x96823.

54. Scaglia, F., Vogel, H., Hawkins, E. P., Vladutiu, G. D., Liu, L. L. and Wong, L. J. (2003). "Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis". American Journal of Medical Genetics 123A(2):172-178.

55. Vives-Bauza, C., Del Toro, M., Solano, A., Montoya, J., Andreu, A. L. and Roig, M. (2003). "Genotype-phenotype correlation in the 5703G>A mutation in the tRNA(ASN) gene of mitochondrial DNA". Journal of Inherited Metabolic Disease 26(5):507-508.

56. Corona, P., Lamantea, E., Greco, M., Carrara, F., Agostino, A., Guidetti, D., Dotti, M. T., Mariotti, C. and Zeviani, M. (2002). "Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations". Annals of Neurology 51(1):118-122.

57. McFarland, R., Clark, K. M., Morris, A. A., Taylor, R. W., Macphail, S., Lightowlers, R. N. and Turnbull, D. M. (2002). "Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation". Nature Genetics 30(2):145-146.

58. Taylor, R. W., Schaefer, A. M., McFarland, R., Maddison, P. and Turnbull, D. M. (2002). "A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy". Neuromuscular Disorders 12(7-8):659-664.

59. Wong, L. J., Liang, M. H., Kwon, H., Bai, R. K., Alper, O. and Gropman, A. (2002). "A cystic fibrosis patient with two novel mutations in mitochondrial DNA: mild disease led to delayed diagnosis of both disorders". American Journal of Medical Genetics 113(1):59-64.

60. Wong, L. J., Liang, M. H., Kwon, H., Park, J., Bai, R. K. and Tan, D. J. (2002). "Comprehensive scanning of the entire mitochondrial genome for mutations". Clinical Chemistry 48(11):1901-1912.

61. Bataillard, M., Chatzoglou, E., Rumbach, L., Sternberg, D., Tournade, A., Laforet, P., Jardel, C., Maisonobe, T. and Lombes, A. (2001). "Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation". Neurology 56(3):405-407.

62. Campos, Y., Gamez, J., Garcia, A., Andreu, A. L., Rubio, J. C., Martin, M. A., del Hoyo, P., Navarro, C., Cervera, C., Garesse, R. and Arenas, J. (2001). "A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with ocular myopathy". Neuromuscular Disorders 11(5):477-480.

63. Finnila, S., Autere, J., Lehtovirta, M., Hartikainen, P., Mannermaa, A., Soininen, H. and Majamaa, K. (2001). "Increased risk of sensorineural hearing loss and migraine in patients with a rare mitochondrial DNA variant 4336A>G in tRNAGln". Journal of Medical Genetics 38(6):400-405.

64. Grasso, M., Diegoli, M., Brega, A., Campana, C., Tavazzi, L. and Arbustini, E. (2001). "The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNA(Leu(CUN)) and is associated with dilated cardiomyopathy". European Journal of Human Genetics 9(4):311-315.

65. Hsieh, R. H., Li, J. Y., Pang, C. Y. and Wei, Y. H. (2001). "A novel mutation in the mitochondrial 16S rRNA gene in a patient with MELAS syndrome, diabetes mellitus, hyperthyroidism and cardiomyopathy". Journal of Biomedical Science 8(4):328-335.

66. Seneca, S., Verhelst, H., De Meirleir, L., Meire, F., Ceuterick-De Groote, C., Lissens, W. and Van Coster, R. (2001). "A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome". Archives of Neurology 58(7):1113-1118.

67. Spagnolo, M., Tomelleri, G., Vattemi, G., Filosto, M., Rizzuto, N. and Tonin, P. (2001). "A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia". Neuromuscular Disorders 11(5):481-484.

68. Sternberg, D., Chatzoglou, E., Laforet, P., Fayet, G., Jardel, C., Blondy, P., Fardeau, M., Amselem, S., Eymard, B. and Lombes, A. (2001). "Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders". Brain 124(Pt 5):984-994.

69. Taivassalo, T., Shoubridge, E. A., Chen, J., Kennaway, N. G., DiMauro, S., Arnold, D. L. and Haller, R. G. (2001). "Aerobic conditioning in patients with mitochondrial myopathies: physiological, biochemical, and genetic effects". Annals of Neurology 50(2):133-141.

70. Terasaki, F., Tanaka, M., Kawamura, K., Kanzaki, Y., Okabe, M., Hayashi, T., Shimomura, H., Ito, T., Suwa, M., Gong, J. S., Zhang, J. and Kitaura, Y. (2001). "A case of cardiomyopathy showing progression from the hypertrophic to the dilated form: association of Mt8348A-->G mutation in the mitochondrial tRNA(Lys) gene with severe ultrastructural alterations of mitochondria in cardiomyocytes". Japanese Circulation Journal 65(7):691-694.

71. Tzen, C. Y., Tsai, J. D., Wu, T. Y., Chen, B. F., Chen, M. L., Lin, S. P. and Chen, S. C. (2001). "Tubulointerstitial nephritis associated with a novel mitochondrial point mutation". Kidney International 59(3):846-854.

72. Dey, R., Tengan, C. H., Morita, M. P., Kiyomoto, B. H. and Moraes, C. T. (2000). "A novel myopathy-associated mitochondrial DNA mutation altering the conserved size of the tRNA(Gln) anticodon loop". Neuromuscular Disorders 10(7):488-492.

73. Hutchin, T. P., Parker, M. J., Young, I. D., Davis, A. C., Pulleyn, L. J., Deeble, J., Lench, N. J., Markham, A. F. and Mueller, R. F. (2000). "A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment". Journal of Medical Genetics 37(9):692-694.

74. Pulkes, T., Siddiqui, A., Morgan-Hughes, J. A. and Hanna, M. G. (2000). "A novel mutation in the mitochondrial tRNA(TYr) gene associated with exercise intolerance". Neurology 55(8):1210-1212.

75. Seneca, S., Ceuterik-De Groote, C., Van Coster, R. and De Meirleir, L. (2000). "A novel mitochondrial transfer RNA proline mutation". Journal of Inherited Metabolic Disease 23(8):853-854.

76. Shin, W. S., Tanaka, M., Suzuki, J., Hemmi, C. and Toyo-Oka, T. (2000). "A novel homoplasmic mutation in mtDNA with a single evolutionary origin as a risk factor for cardiomyopathy". American Journal of Human Genetics 67(6):1617-1620.

77. Silvestri, G., Mongini, T., Odoardi, F., Modoni, A., deRosa, G., Doriguzzi, C., Palmucci, L., Tonali, P. and Servidei, S. (2000). "A new mtDNA mutation associated with a progressive encephalopathy and cytochrome c oxidase deficiency". Neurology 54(8):1693-1696.

78. Arenas, J., Campos, Y., Bornstein, B., Ribacoba, R., Martin, M. A., Rubio, J. C., Santorelli, F. M., Zeviani, M., DiMauro, S. and Garesse, R. (1999). "A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers". Neurology 52(2):377-382.

79. Cardaioli, E., Dotti, M. T., Hayek, G., Zappella, M. and Federico, A. (1999). "Studies on mitochondrial pathogenesis of Rett syndrome: ultrastructural data from skin and muscle biopsies and mutational analysis at mtDNA nucleotides 10463 and 2835". Journal of Submicroscopic Cytology and Pathology 31(2):301- 304.

80. Gr\xFCnewald, T., Porschke, H., Goebel, H., Reichmann, H. and Seibel, P. (1999). "Chronic progressive external ophthalmoplegia with a novel mitochondrial DNA deletion and a mutation in the tRNA (Leu(UUR)) gene". Drug Development Research 46(1):80-85.

81. Hadjigeorgiou, G. M., Kim, S. H., Fischbeck, K. H., Andreu, A. L., Berry, G. T., Bingham, P., Shanske, S., Bonilla, E. and DiMauro, S. (1999). "A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy". Journal of the Neurological Sciences 164(2):153-157.

82. Houshmand, M., Lindberg, C., Moslemi, A. R., Oldfors, A. and Holme, E. (1999). "A novel heteroplasmic point mutation in the mitochondrial tRNA(Lys) gene in a sporadic case of mitochondrial encephalomyopathy: de novo mutation and no transmission to the offspring". Human Mutation 13(3):203-209.

83. Shtilbans, A., El-Schahawi, M., Malkin, E., Shanske, S., Musumeci, O. and DiMauro, S. (1999). "A novel mutation in the mitochondrial DNA transfer ribonucleic acidAsp gene in a child with myoclonic epilepsy and psychomotor regression". Journal of Child Neurology 14(9):610-613.

84. Sue, C. M., Tanji, K., Hadjigeorgiou, G., Andreu, A. L., Nishino, I., Krishna, S., Bruno, C., Hirano, M., Shanske, S., Bonilla, E., Fischel-Ghodsian, N., DiMauro, S. and Friedman, R. (1999). "Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene". Neurology 52(9):1905-1908.

85. Tiranti, V., Carrara, F., Confalonieri, P., Mora, M., Maffei, R. M., Lamantea, E. and Zeviani, M. (1999). "A novel mutation (8342G-->A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus". Neuromuscular Disorders 9(2):66-71.

86. de Coo, I. F., Sistermans, E. A., de Wijs, I. J., Catsman-Berrevoets, C., Busch, H. F., Scholte, H. R., de Klerk, J. B., van Oost, B. A. and Smeets, H. J. (1998). "A mitochondrial tRNA(Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes". Neurology 50(1):293-295.

87. Franceschina, L., Salani, S., Bordoni, A., Sciacco, M., Napoli, L., Comi, G. P., Prelle, A., Fortunato, F., Hadjigeorgiou, G. M., Farina, E., Bresolin, N., D'Angelo, M. G. and Scarlato, G. (1998). "A novel mitochondrial tRNA(Ile) point mutation in chronic progressive external ophthalmoplegia". Journal of Neurology 245(11):755- 758.

88. Hanna, M. G., Nelson, I. P., Morgan-Hughes, J. A. and Wood, N. W. (1998). "MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity". Journal of Neurology, Neurosurgery and Psychiatry 65(4):512-517.

89. Jaksch, M., Hofmann, S., Kleinle, S., Liechti-Gallati, S., Pongratz, D. E., Muller-Hocker, J., Jedele, K. B., Meitinger, T. and Gerbitz, K. D. (1998). "A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy". Journal of Medical Genetics 35(11):895-900.

90. Jaksch, M., Klopstock, T., Kurlemann, G., Dorner, M., Hofmann, S., Kleinle, S., Hegemann, S., Weissert, M., Muller-Hocker, J., Pongratz, D. and Gerbitz, K. D. (1998). "Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene". Annals of Neurology 44(4):635-640.

91. Kameoka, K., Isotani, H., Tanaka, K., Azukari, K., Fujimura, Y., Shiota, Y., Sasaki, E., Majima, M., Furukawa, K., Haginomori, S., Kitaoka, H. and Ohsawa, N. (1998). "Novel mitochondrial DNA mutation in tRNA(Lys) (8296A-->G) associated with diabetes". Biochemical and Biophysical Research Communications 245(2):523-527.

92. Kameoka, K., Isotani, H., Tanaka, K., Kitaoka, H. and Ohsawa, N. (1998). "Impaired insulin secretion in Japanese diabetic subjects with an A-to-G mutation at nucleotide 8296 of the mitochondrial DNA in tRNA(Lys)". Diabetes Care 21(11):2034-2035.

93. Kleinle, S., Schneider, V., Moosmann, P., Brandner, S., Krahenbuhl, S. and Liechti-Gallati, S. (1998). "A novel mitochondrial tRNA(Phe) mutation inhibiting anticodon stem formation associated with a muscle disease". Biochemical and Biophysical Research Communications 247(1):112-115.

94. Lynn, S., Wardell, T., Johnson, M. A., Chinnery, P. F., Daly, M. E., Walker, M. and Turnbull, D. M. (1998). "Mitochondrial diabetes: investigation and identification of a novel mutation". Diabetes 47(11):1800-1802.

95. Schuelke, M., Bakker, M., Stoltenburg, G., Sperner, J. and von Moers, A. (1998). "Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNA(Ser(UCN)) mutation". Annals of Neurology 44(4):700- 704.

96. Seneca, S., Lissens, W., Liebaers, I., van den Bergh, P., Nassogne, M. C., Benatar, A. and de Meirleir, L. (1998). "Pitfalls in the diagnosis of mtDNA mutations". Journal of Medical Genetics 35(11):963-964.

97. Silvestri, G., Rana, M., DiMuzio, A., Uncini, A., Tonali, P. and Servidei, S. (1998). "A late-onset mitochondrial myopathy is associated with a novel mtDNApoint mutation in the tRNA(Trp) gene". Neuromuscular Disorders 8(5):291-295.

98. Sternberg, D., Danan, C., Lombes, A., Laforet, P., Girodon, E., Goossens, M. and Amselem, S. (1998). "Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders". Human Molecular Genetics 7(1):33-42.

99. Tawata, M., Ohtaka, M., Iwase, E., Ikegishi, Y., Aida, K. and Onaya, T. (1998). "New mitochondrial DNA homoplasmic mutations associated with Japanese patients with type 2 diabetes". Diabetes 47(2):276- 277.

100. Taylor, R. W., Chinnery, P. F., Bates, M. J., Jackson, M. J., Johnson, M. A., Andrews, R. M. and Turnbull, D. M. (1998). "A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis". Biochemical and Biophysical Research Communications 243(1):47-51.

101. Tiranti, V., D'Agruma, L., Pareyson, D., Mora, M., Carrara, F., Zelante, L., Gasparini, P. and Zeviani, M. (1998). "A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation". Annals of Neurology 43(1):98-101.

102. Vissing, J., Salamon, M. B., Arlien-Soborg, P., Norby, S., Manta, P., DiMauro, S. and Schmalbruch, H. (1998). "A new mitochondrial tRNA(Met) gene mutation in a patient with dystrophic muscle and exercise intolerance". Neurology 50(6):1875-1878.

103. Bidooki, S. K., Johnson, M. A., Chrzanowska-Lightowlers, Z., Bindoff, L. A. and Lightowlers, R. N. (1997). "Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes". American Journal of Human Genetics 60(6):1430-1438.

104. Chalmers, R. M., Lamont, P. J., Nelson, I., Ellison, D. W., Thomas, N. H., Harding, A. E. and Hammans, S. R. (1997). "A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome". Neurology 49(2):589-592.

105. Chinnery, P. F., Johnson, M. A., Taylor, R. W., Durward, W. F. and Turnbull, D. M. (1997). "A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia". Neurology 49(4):1166- 1168.

106. Chinnery, P. F., Johnson, M. A., Taylor, R. W., Lightowlers, R. N. and Turnbull, D. M. (1997). "A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis". Annals of Neurology 41(3):408-410.

107. Hao, H. and Moraes, C. T. (1997). "A disease-associated G5703A mutation in human mitochondrial DNA causes a conformational change and a marked decrease in steady-state levels of mitochondrial tRNA(Asn)". Molecular and Cellular Biology 17(12):6831-6837.

108. Kawarai, T., Kawakami, H., Kozuka, K., Izumi, Y., Matsuyama, Z., Watanabe, C., Kohriyama, T. and Nakamura, S. (1997). "A new mitochondrial DNA mutation associated with mitochondrial myopathy: tRNA(Leu)(UUR) 3254C-to-G". Neurology 49(2):598-600.

109. Ozawa, M., Nishino, I., Horai, S., Nonaka, I. and Goto, Y. I. (1997). Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families". Muscle and Nerve 20(3):271-278.

110. Santorelli, F. M., Tanji, K., Sano, M., Shanske, S., El-Shahawi, M., Kranz-Eble, P., DiMauro, S. and De Vivo, D. C. (1997). "Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene". Annals of Neurology 42(2):256-260.

111. Seki, A., Nishino, I., Goto, Y., Maegaki, Y. and Koeda, T. (1997). "Mitochondrial encephalomyopathy with 15915 mutation: clinical report". Pediatric Neurology 17(2):161-164.

112. Suzuki, Y., Suzuki, S., Hinokio, Y., Chiba, M., Atsumi, Y., Hosokawa, K., Shimada, A., Asahina, T. and Matsuoka, K. (1997). "Diabetes associated with a novel 3264 mitochondrial tRNA(Leu)(UUR) mutation". Diabetes Care 20(7):1138-1140.

113. Tang, J., Qi, Y., Bao, X. H. and Wu, X. R. (1997). "Mutational analysis of mitochondrial DNA of children with Rett syndrome". Pediatric Neurology 17(4):327-330.

114. Tsukuda, K., Suzuki, Y., Kameoka, K., Osawa, N., Goto, Y., Katagiri, H., Asano, T., Yazaki, Y. and Oka, Y. (1997). Screening of patients with maternally transmitted diabetes for mitochondrial gene mutations in the tRNA[Leu(UUR)] region". Diabetic Medicine 14(12):1032-1037.

115. Verma, A., Piccoli, D. A., Bonilla, E., Berry, G. T., DiMauro, S. and Moraes, C. T. (1997). "A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy". Pediatric Research 42(4):448-454.

116. Weber, K., Wilson, J. N., Taylor, L., Brierley, E., Johnson, M. A., Turnbull, D. M. and Bindoff, L. A. (1997). "A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle". American Journal of Human Genetics 60(2):373-380.

117. Fu, K., Hartlen, R., Johns, T., Genge, A., Karpati, G. and Shoubridge, E. A. (1996). "A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy". Human Molecular Genetics 5(11):1835- 1840.

118. Manfredi, G., Schon, E. A., Bonilla, E., Moraes, C. T., Shanske, S. and DiMauro, S. (1996). "Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy". Human Mutation 7(2):158-163.

119. Merante, F., Myint, T., Tein, I., Benson, L. and Robinson, B. H. (1996). "An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy". Human Mutation 8(3):216-222.

120. Nishino, I., Seki, A., Maegaki, Y., Takeshita, K., Horai, S., Nonaka, I. and Goto, Y. (1996). A novel mutation in the mitochondrial tRNAThr gene associated with a mitochondrial encephalomyopathy". Biochemical and Biophysical Research Communications 225(1):180-185.

121. Santorelli, F. M., Mak, S. C., El-Schahawi, M., Casali, C., Shanske, S., Baram, T. Z., Madrid, R. E. and DiMauro, S. (1996). "Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNALys gene (G8363A)". American Journal of Human Genetics 58(5):933-939.

122. Santorelli, F. M., Schlessel, J. S., Slonim, A. E. and DiMauro, S. (1996). "Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death". Pediatric Neurology 15(2):145-149.

123. Silvestri, G., Servidei, S., Rana, M., Ricci, E., Spinazzola, A., Paris, E. and Tonali, P. (1996). "A novel mitochondrial DNA point mutation in the tRNA(Ile) gene is associated with progressive external ophtalmoplegia". Biochemical and Biophysical Research Communications 220(3):623-627.

124. Bacino, C., Prezant, T. R., Bu, X., Fournier, P. and Fischel-Ghodsian, N. (1995). "Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness". Pharmacogenetics 5(3):165- 172.

125. Casali, C., Santorelli, F. M., D'Amati, G., Bernucci, P., DeBiase, L. and DiMauro, S. (1995). "A novel mtDNA point mutation in maternally inherited cardiomyopathy". Biochemical and Biophysical Research Communications 213(2):588-593.

126. Goto, Y. (1995). "Clinical features of MELAS and mitochondrial DNA mutations". Muscle and Nerve 3(12):S107-S112.

127. Hanna, M. G., Nelson, I., Sweeney, M. G., Cooper, J. M., Watkins, P. J., Morgan-Hughes, J. A. and Harding, A. E. (1995). "Congenital encephalomyopathy and adult-onset myopathey and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation". American Journal of Human Genetics 56(5):1026-1033.

128. Hao, H., Bonilla, E., Manfredi, G., DiMauro, S. and Moraes, C. T. (1995). "Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus". American Journal of Human Genetics 56(5):1017-1025.

129. Hutchin, T. and Cortopassi, G. (1995). "A mitochondrial DNA clone is associated with increased risk for Alzheimer disease". Proceedings of the National Academy of Sciences of the United States of America 92(15):6892-6895.

130. Manouvrier, S., Rotig, A., Hannebique, G., Gheerbrandt, J. D., Royer-Legrain, G., Munnich, A., Parent, M., Grunfeld, J. P., Largilliere, C., Lombes, A. and Bonnefont, J. P. (1995). "Point mutation of the mitochondrial tRNALeu gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness". Journal of Medical Genetics 32(8):654-656.

131. Massin, P., Guillausseau, P. J., Vialettes, B., Paquis, V., Orsini, F., Grimaldi, A. D. and Gaudric, A. (1995). "Macular pattern dystrophy associated with a mutation of mitochondrial DNA". American Journal of Ophthalmology 120(2):247-248.

132. Masucci, J. P., Davidson, M., Koga, Y., Schon, E. A. and King, M. P. (1995). "In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNALysgene: two genotypes produce similar phenotypes". Molecular and Cellular Biology 15(5):2872-2881.

133. Nakamura, M., Nakano, S., Goto, Y., Ozawa, M., Nagahama, Y., Fukuyama, H., Akiguchi, I., Kaji, R. and Kimura, J. (1995). "A novel point mutation in the mitochondrial tRNASer(UCN) gene detected in a family with MERRF/MELAS overlap syndrome". Biochemical and Biophysical Research Communications 214(1):86- 93.

134. Nelson, I., Hanna, M. G., Alsanjari, N., Scaravilli, F., Morgan-Hughes, J. A. and Harding, A. E. (1995). "A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study". Annals of Neurology 37(3):400-403.

135. Santorelli, F. M., Mak, S. C., Vazquez-Acevedo, M., Gonzalez-Astiazaran, A., Ridaura-Sanz, C., Gonzalez-Halphen, D. and DiMauro, S. (1995). "A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy". Biochemical and Biophysical Research Communications 216(3):835-840.

136. Shoffner, J. M., Bialer, M. G., Pavlakis, S. G., Lott, M. T., Kaufman, A., Dixon, J., Teichberg, S. and Wallace, D. C. (1995). <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=7854527" target="_blank">"Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene". Neurology 45(2):286-292.

137. Tiranti, V., Chariot, P., Carella, F., Toscano, A., Soliveri, P., Girlanda, P., Carrara, F., Fratta, G. M., Reid, F. M., Mariotti, C. and Zeviani, M. (1995). "Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene". Human Molecular Genetics 4(8):1421-1427.

138. Cortopassi, G. A. and Hutchin, T. P. (1994). Germline inheritance of a rare mtDNA variant leads to greatly increased risk for Alzheimer's disease. (Abstract 857)". American Journal of Human Genetics 55(Supplement):A149.

139. Goto, Y., Tsugane, K., Tanabe, Y., Nonaka, I. and Horai, S. (1994). "A new point mutation at nucelotide pair 3291 of the tRNALeu(UUR) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)". Biochemical and Biophysical Research Communications 202(3):1624-1630.

140. Hattori, Y., Goto, Y., Sakuta, R., Nonaka, I., Mizuna, Y. and Horai, S. (1994). Point mutations in mitochondrial tRNA genes: sequence analysis of chronic progressive external ophthalmoplegia (CPEO)". Journal of the Neurological Sciences 125(1):50-55.

141. Hayashi, J., Ohta, S., Kagawa, Y., Takai, D., Miyabayashi, S., Tada, K., Fukushima, H., Inui, K., Okada, S., Goto, Y. and Nonaka, I. (1994). "Functional and morphological abnormalities of mitochondria in human cells containing mitochondrial DNA with pathogenic point mutations in tRNA genes". The Journal of Biological Chemistry 269(29):19060-19066.

142. Ionasescu, V. V., Hart, M., DiMauro, S. and Moraes, C. T. (1994). "Clinical and morphologic features of a myopathy associated with a point mutation in the mitochondrial tRNAPro gene". Neurology 44(5):975-977.

143. Jean-Francois, M. J., Lertrit, P., Berkovic, S. F., Crimmins, D., Morris, J., Marzuki, S. and Byrne, E. (1994). "Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNALeu(UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies". Australian and New Zealand Journal of Medicine 24(2):188-193.

144. Leroy, D. and Norby, S. (1994). "A new human mtDNA polymorphism: tRNAGln/4336)(T-C)". Clinical Genetics 45(2):109-110.

145. Merante, F., Tein, I., Benson, L. and Robinson, B. H. (1994). "Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene". American Journal of Human Genetics 55(3):437-446.

146. Reid, F. M., Vernham, G. A. and Jacobs, H. T. (1994). "A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness". Human Mutation 3(3):243-247.

147. Sato, W., Hayasaka, K., Shoji, Y., Takahashi, T., Takada, G., Saito, M., Fukawa, O. and Wachi, E. (1994). "A mitochondrial tRNA(Leu)(UUR) mutation at 3256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)". Biochemistry and Molecular Biology International (Sydney) 33(6):1055-1061.

148. Seibel, P., Lauber, J., Klopstock, T., Marsac, C., Kadenbach, B. and Reichmann, H. (1994). "Chronic progressive external ophthalmoplegia is associated with a novel mutation in the mitochondrial tRNAAsn gene". Biochemical and Biophysical Research Communications 204(2):482-489.

149. Silvestri, G., Santorelli, F. M., Shanske, S., Whitley, C. B., Schimmenti, L. A., Smith, S. A. and DiMauro, S. (1994). "A new mtDNA mutation in the tRNALeu(UUR) gene associated with maternally inherited cardiomyopathy". Human Mutation 3(1):37-43.

150. Bindoff, L. A., Howell, N., Poulton, J., McCullough, D. A., Morten, K. J., Lightowlers, R. N., Turnbull, D. M. and Weber, K. (1993). "Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism". The Journal of Biological Chemistry 268(26):19559-19564.

151. Fischel-Ghodsian, N., Prezant, T. R., Bu, X. and Oztas, S. (1993). "Mitochondrial ribosomal RNA gene mutation in a patient with sporadic aminoglycoside ototoxicity". American Journal of Otolaryngology 14(6):399-403.

152. Hayashi, J., Ohta, S., Takai, D., Miyabayashi, S., Sakuta, R., Goto, Y. and Nonaka, I. (1993). "Accumulation of mtDNA with a mutation at position 3271 in tRNALeu(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function". Biochemical and Biophysical Research Communications 197(3):1049-1055.

153. Hutchin, T., Haworth, I., Higashi, K., Fischel-Ghodsian, N., Stoneking, M., Saha, N., Arnos, C. and Cortopassi, G. (1993). "A molecular basis for human hypersensitivity to aminoglycoside antibiotics". Nucleic Acids Research 21(18):4174-4179.

154. Moraes, C. T., Ciacci, F., Bonilla, E., Ionasescu, V., Schon, E. A. and DiMauro, S. (1993). "A mitochondrial tRNA anticodon swap associated with a muscle disease". Nature Genetics 4(3):284-288.

155. Moraes, C. T., Ciacci, F., Bonilla, E., Jansen, C., Hirano, M., Rao, N., Lovelace, R. E., Rowland, L. P., Schon, E. A. and DiMauro, S. (1993). "Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNALeu(UUR) gene an etiologic hot spot?". The Journal of Clinical Investigation 92(6):2906-2915.

156. Moraes, C. T., Ciacci, F., Silverstri, G., Shanske, S., Sciacco, M., Hirano, M., Schon, E. A., Bonilla, E. and DiMauro, S. (1993). "Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA". Neuromuscular Disorders 3(1):43-50.

157. Morten, K. J., Cooper, J. M., Brown, G. K., Lake, B. D., Pike, D. and Poulton, J. (1993). "A new point mutation associated with mitochondrial encephalomyopathy". Human Molecular Genetics 2(12):2081-2087.

158. Munscher, C., Muller-Hocker, J. and Kadenbach, B. (1993). "Human aging is associated with various point mutations in tRNA genes of mitochondrial DNA". Biological Chemistry Hoppe Seyler 374(12):1099-1104.

159. Prezant, T. R., Agapian, J. V., Bohlman, M. C., Bu, X., Oztas, S., Qiu, W. Q., Arnos, K. S., Cortopassi, G. A., Jaber, L., Rotter, J. I., Shohat, M. and Fischel-Ghodsian, N. (1993). "Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness". Nature Genetics 4(3):289-294.

160. Sakuta, R., Goto, Y., Horai, S. and Nonaka, I. (1993). "Mitochondrial DNA mutations at nucleotide positions 3243 and 3271 in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke- like episodes: a comparative study". Journal of the Neurological Sciences 115(2):158-160.

161. Shoffner, J. M., Brown, M. D., Torroni, A., Lott, M. T., Cabell, M. R., Mirra, S. S., Beal, M. F., Yang, C., Gearing, M., Salvo, R., Watts, R. L., Juncos, J. L., Hansen, L. A., Crain, B. J., Fayad, M., Reckord, C. L. and Wallace, D. C. (1993). "Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients". Genomics 17(1):171-184.

162. Shoffner, J. M., Krawiecki, N., Cabell, M. F., Torroni, A. and Wallace, D. C. (1993). "A novel tRNALeu(UUR) mutation in childhood mitochondrial myopathy. Poster 949". American Journal of Human Genetics 53(Suppl.):287.

163. Sweeney, M. G., Brockington, M., Weston, M. J., Morgan-Hughes, J. A. and Harding, A. E. (1993). "Mitochondrial DNA transfer RNA mutation Leu(UUR) A-G 3260: a second family with myopathy and cardiomyopathy". Quarterly Journal of Medicine 86(7):435-438.

164. Sweeney, M. G., Bundey, S., Brockington, M., Poulton, K. R., Winer, J. B. and Harding, A. E. (1993). "Mitochondrial myopathy associated with sudden death in young adults and a novel mutation in the mitochondrial DNA leucine transfer RNA(UUR) gene". Quarterly Journal of Medicine 86(11):709-713.

165. Yoon, K. L., Ernst, S. G., Rasmussen, C., Dooling, E. C. and Aprille, J. R. (1993). "Mitochondrial disorder associated with newborn cardiopulmonary arrest". Pediatric Research 33(5):433-440.

166. Zeviani, M., Muntoni, F., Savarese, N., Serra, G., Tiranti, V., Carrara, F., Mariotti, C. and DiDonato, S. (1993). "A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNALys gene". European Journal of Human Genetics 1(1):80-87.

167. Brown, M. D., Torroni, A., Shoffner, J. M. and Wallace, D. C. (1992). "Mitochondrial tRNAThr mutations and lethal infantile mitochondrial myopathy". American Journal of Human Genetics 51(2):446- 447.

168. Goto, Y., Tojo, M., Tohyama, J., Horai, S. and Nonaka, I. (1992). "A novel point mutation in the mitochondrial tRNALeu(UUR) gene in a family with mitochondrial myopathy". Annals of Neurology 31(6):672- 675.

169. Ito, T., Hattori, K., Obayashi, T., Tanaka, M., Sugiyama, S. and Ozawa, T. (1992). "Mitochondrial DNA mutations in cardiomyopathy". Japanese Circulation Journal 56(10):1045-1053.

170. Silvestri, G., Moraes, C. T., Shanske, S., Oh, S. J. and DiMauro, S. (1992). "A new mtDNA mutation in the tRNALys gene associated with myoclonic epilepsy and ragged red fibers (MERRF)". American Journal of Human Genetics 51(6):1213-1217.

171. Taniike, M., Fukushima, H., Yanagihara, I., Tsukamoto, H., Tanaka, J., Fujimura, H., Nagai, T., Sano, T., Yamaoka, K., Inui, K. and Okada, S. (1992). "Mitochondrial tRNAIle mutation in fatal cardiomyopathy". Biochemical and Biophysical Research Communications 186(1):47-53.

172. van den Ouweland, J. M., Lemkes, H. H. P., Ruitenbeek, W., Sandkjujl, L. A., deVijlder, M. F., Struyvenberg, P. A. A., van de Kamp, J. J. P. and Maassen, J. A. (1992). "Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness". Nature Genetics 1(5):368-371.

173. Wallace, D. C., Shoffner, J. M., Brown, M. D., Torroni, A., Lott, M. T. and Cabell, M. (1992). "Mitochondrial DNA mutations associated with Alzheimer's and Parkinson's disease." American Journal of Human Genetics 51:A30.

174. Goto, Y., Nonaka, I. and Horai, S. (1991). "A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)". Biochimica et Biophysica Acta 1097(3):238-240.

175. Lauber, J., Marsac, C., Kadenbach, B. and Seibel, P. (1991). "Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases". Nucleic Acids Research 19(7):1393-1397.

176. Yoon, K. L., Aprille, J. R. and Ernst, S. G. (1991). "Mitochondrial tRNAThr mutation in fatal infantile respiratory enzyme deficiency". Biochemical and Biophysical Research Communications 176(3):1112-1115.

177. Zeviani, M., Gellera, C., Antozzi, C., Rimoldi, M., Morandi, L., Villani, F., Tiranti, V. and DiDonato, S. (1991). "Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)". Lancet 338(8760):143-147.

178. Goto, Y., Nonaka, I. and Horai, S. (1990). "A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies". Nature 348(6302):651- 653.

179. Shoffner, J. M., Lott, M. T., Lezza, A. M., Seibel, P., Ballinger, S. W. and Wallace, D. C. (1990). "Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation". Cell 61(6):931-937.

180. Tanaka, M., Ino, H., Ohno, K., Hattori, K., Sato, W., Ozawa, T., Tanaka, T. and Itoyama, S. (1990). "Mitochondrial mutation in fatal infantile cardiomyopathy". Lancet 336(8728):1452.

181. Wallace, D. C., Zheng, X., Lott, M. T., Shoffner, J. M., Hodge, J. A., Kelley, R. I., Epstein, C. M. and Hopkins, L. C. (1988). "Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease". Cell 55(4):601-610.

---

The original version of this table was posted in 2006, reproduced with permission from PRINCIPLES AND PRACTICE OF MEDICAL GENETICS, 5/e. © 2006 Elsevier Ltd.