Clinical Phenotypes (non-LHON) Associated with mtDNA Polypeptide Gene Mutations Reported in the Literature

MTATP6

Syndromes Locus Disease* Allele Nucleotide Change AA Change Ho He Status** References
Dystonia MTND1 Adult-Onset Dystonia A3796G A-G T164A - + Prov (64)
Dystonia,Leigh Syndrome MTND6 LS/Dystonia T14487C T-C M63V - + Cfrm (65)
Dystonia,Leigh Syndrome MTND6 LDYT/LS G14459A G-A A72V + + Cfrm (26), (32)
Leigh Syndrome MTND3 LS T10158C T-C S34P - + Cfrm (36)
Leigh Syndrome MTND3 LS-like/ESOC T10191C T-C S45P - + Cfrm (71)
Leigh Syndrome MTND4 LS C11777A C-A R340S - + Cfrm (19)
Leigh Syndrome MTND5 LS T12706C T-C F124L - + Cfrm (70)
Leigh syndrome MTATP6 LS/FBSN T9176C T-C L217P + + Prov (73)
Leigh Syndrome MTATP6 LS T9176G T-G L217R - + Prov (10)
Leigh Syndrome MTATP6 LS T9185C T-C L220P - + Prov (45)
Leigh Syndrome MTATP6 LS T9191C T-C L222P - + Prov (45)
Leigh Syndrome MTATP6 LS/NARP T8993C T-C L156P - + Cfrm (11, 18, 41, 58)
NARP T8993G T-G L156R - + Cfrm (12, 24, 25, 47, 48, 51, 59, 63, 67, 68)
Leigh Syndrome MTCO3 LS-like C9537insC C-CC Q111frameshift + - Prov (74)
 
Encephalomyopathy, MELAS MTND1 MELAS T3308C T-C M1T - + Prov (9)
Encephalomyopathy, MELAS MTND1 MELAS/LHON G3376A G-A E24K - + Prov (6)
Encephalomyopathy, MELAS MTND1 MELAS G3697A G-A G131S - + Prov (33)
Encephalomyopathy, MELAS MTND1 MELAS G3946A G-A E214K + + Prov (33)
Encephalomyopathy, MELAS MTND1 MELAS T3949C T-C Y215H - + Prov (33)
Encephalomyopathy, MELAS MTND4 MELAS A11084G A-G T109A + + P.M. (38, 57)
Encephalomyopathy, MELAS MTND5 MELAS A12770G A-G E145G - + Prov (40)
Encephalomyopathy, MELAS MTND5 MELAS/LHON/ LS overlap syndrome A13045C A-C M237L - + Prov (40)
Encephalomyopathy, MELAS MTND5 MELAS/LS A13084T A-T S250C - + Prov (16)
Encephalomyopathy, MELAS MTND5 MELAS/LS G13513A G-A D393N - + Cfrm (60)
Encephalomyopathy, MELAS MTND5 MELAS A13514G A-G D393G - + Cfrm (15)
Encephalomyopathy, MELAS MTND6 MELAS G14453A G-A A74V - + Prov (54)
Encephalomyopathy, MELAS MTCYB MELAS/PD 14787del4 TTAA-del I14frameshift - + Prov (17)
Epilepsy MTCO1 Therapy-resistant Epilepsy C6489A C-A L196I - + Prov (76)
Encephalomyopathy, Multisystem Disorder MTCO1 Multisystem Disorder G6930A G-A G343Ter - + Prov (7)
Encephalomyopathy, Multisystem Disorder MTCOI Myopathy and Cortical Lesions 6015del5 Del 5 bp Frameshift, 42 peptide

-

+ Prov (14)
Encephalomyopathy MTCO2 Encephalomyopathy T7587C T-C M1T - + Prov (13)
Encephalomyopathy, Multisystem Disorder MTCO2 Multisystem Disorder G7896A G-A W104Ter - + Prov (8)
Encephalomyopathy, Lactic Acidosis MTCO2 Lactic Acidosis 8042del2 AT-del M153Ter - + Prov (81)
Encephalomyopathy MTCO3 Encephalomyopathy G9952A G-A W248Ter - + Prov (23)
Encephalomyopathy, MELAS MTCO3 MELAS/PEM/ NAION T9957C T-C F251L - + Prov (43)
Encephalomyopathy, Lactic Acidosis MTATP6 Lactic Acidosis/ Seizures 9205del2 TA-del Ter227M + - Prov (72)
Encephalomyopathy, Lactic Acidosis MTCYB Multisystem Disorder A15579G A-G Y278C - + Prov (80)
Encephalomyopathy, Septo-Optic Dysplasia MTCYB Septo-Optic Dysplasia T14849C T-C S35P - + Prov (61)
 
MM, Exercise Intolerance MTCYB EXIT G14846A G-A G34S - + Prov (4)
Mitochondrial Myopathy MTCYB MM G15059A G-A G190Ter - + Prov (1)
MM, Exercise Intolerance MTCYB EXIT G15084A G- A W113Ter - + Prov (4)
MM, Exercise Intolerance MTCYB EXIT G15150A G-A W135Ter - + Prov (37)
MM, Exercise Intolerance MTCYB EXIT G15168A G-A W141Ter - + Prov (4)
MM, Exercise Intolerance MTCYB EXIT T15197C T-C S151P - + Prov (37)
MM, Exercise Intolerance MTCYB EXIT/Encephalomyopathy G15242A G-A G166Ter - + Prov (28, 31)
MM, Exercise Intolerance MTCYB EXIT G15497A G-A G251S + - Prov (66)
MM, Exercise Intolerance MTCYB EXIT 15498del24 24 bp deletion- 251GDPDNYTL-del258 - + Prov (4)
MM, Exercise Intolerance MTCYB EXIT G15615A G-A G290D - + Prov (20)
MM, Exercise Intolerance MTCYB EXIT G15723A G-A W326Ter - + Prov (4)
Mitochondrial Myopathy MTCYB MM G15762A G-A G339E - + Prov (2)
MM, CPEO MTND4 CPEO T11232C T-C L140P - + Prov (52)
MM, Exercise Intolerance MTND4 EXIT G11832A G-A W358Ter - + Prov (5)
MM, Exercise Intolerance MTCO1 EXIT/Myoglobinuria G5920A G-A W6Ter - + Prov (27)
Mitochondrial Myopathy MTCO1 MM & Rhabdomyolysis G6708A G-A G269Ter - + Prov (34)
Mitochondrial Myopathy MTCO2 MM T7671A T-A M29K - + Prov (53)
MM, Exercise Intolerance MTCO2 EXIT/Rhabdomyolysis T7989C T-C L135P - + Prov (44)
Mitochondrial Myopathy MTCO3 Myopathy and Myoglobinuria 9487del15 Del 15 bp Removed 5 aa + Prov (29)
 
Hypertrophic Cardiomyopathy MTCYB HCM G15243A G-A G166E - + Prov (75)
Hypertrophic Cardiomyopathy MTCYB HCM G15498A G-A G251D - + Prov (3)
 
Deafness MTCO1 DEAF A7443G A-G Ter514G + - Prov (49)
Deafness MTCO1 DEAF A7445C A-C Ter514S + - Prov (49)
Deafness-Sensory Neural Hearing Loss MTCO1 SNHL/LHON G7444A G-A Ter514K + - Prov (49)
Deafness-Sensory Neural Hearing Loss MTCO1 SNHL A7445G A-G Ter514Ter + + Cfrm (22, 55, 56, 77)
Deafness-Sensory Neural Hearing Loss MTCO2 SNHL A8108G A-G I175V + - Prov (79)
Deafness-Sensory Neural Hearing Loss MTND6 SNHL C14340T C-T V112M + - Prov (79)
 
Diabetes Mellitus MTND1 NIDDM/PEO G3316A G- A A4T + - Unclear (46)
Diabetes Mellitus MTND4 DM A12026G A-G I423V + - Prov (69)
 
Alzheimer & Parkinson Disease MTND1 ADPD A3397G A-G M31V + - Prov (62, 78)
Alzheimer & Parkinson Disease MTND2 AD G5460A G-A A331T + + P.M. (35, 39, 50)
Alzheimer & Parkinson Disease MTND2 AD G5460T G-T A331S + + Prov (35, 39, 50)
 
Idiopathic Sideroblastic Anemia MTCO1 SIDA T6721C T-C M273T - + Prov (21)
Idiopathic Sideroblastic Anemia MTCO1 SIDA T6742C T-C I280T - + Prov (21)
 

Abbreviations
Plasmy: Ho, homoplasmy; He, heteroplasmy
* Disease: AD, Alzheimer's Disease; ADPD, Alzheimer's Disease and Parkinsons's Disease; CPEO, Chronic Progressive External Ophthalmoplegia; EXIT, exercise intolerance; LHON Leber Hereditary Optic Neuropathy; LS, Leigh Syndrome; MELAS, Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes; MM, mitochondrial myopathy; NAION Nonarteritic Anterior Ischemic Optic Neuropathy; NARP, Neurogenic muscle weakness, Ataxia, and Retinitis Pigmentosa; NIDDM, Non-Insulin Dependent Diabetes Mellitus; SIDA, sideroblastic anemia; SNHL, Sensorineural Hearing Loss.
* *Status: Cfrm, considered confirmed by multiple reports in the literature; Prov, provisional isolated report(s), not yet confirmed by multiple labs; P.M., reported originally in the literature at pathogenic but now generally considered to be a polymorphic variant.

References

1. Andreu, A. L., Bruno, C., Dunne, T. C., Tanji, K., Shanske, S., Sue, C. M., Krishna, S., Hadjigeorgiou, G. M., Shtilbans, A., Bonilla, E. and DiMauro, S. (1999). "A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria." Annals of Neurology 45(1):127-130.

2. Andreu, A. L., Bruno, C., Shanske, S., Shtilbans, A., Hirano, M., Krishna, S., Hayward, L., Systrom, D. S., Brown, R. H., Jr. and DiMauro, S. (1998). "Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy." Neurology 51(5):1444-1447.

3. Andreu, A. L., Checcarelli, N., Iwata, S., Shanske, S. and DiMauro, S. (2000). "A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy." Pediatric Research 48(3):311-314.

4. Andreu, A. L., Hanna, M. G., Reichmann, H., Bruno, C., Penn, A. S., Tanji, K., Pallotti, F., Iwata, S., Bonilla, E., Lach, B., Morgan-Hughes, J. and DiMauro, S. (1999). "Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA." New England Journal of Medicine 341(14):1037-1044.

5. Andreu, A. L., Tanji, K., Bruno, C., Hadjigeorgiou, G. M., Sue, C. M., Jay, C., Ohnishi, T., Shanske, S., Bonilla, E. and DiMauro, S. (1999). "Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene." Annals of Neurology 45(6):820-823.

6. Blakely, E. L., de Silva, R., King, A., Schwarzer, V., Harrower, T., Dawidek, G., Turnbull, D. M. and Taylor, R. W. (2005). "LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation." European Journal of Human Genetics 13(5):623-627.

7. Bruno, C., Martinuzzi, A., Tang, Y., Andreu, A. L., Pallotti, F., Bonilla, E., Shanske, S., Fu, J., Sue, C. M., Angelini, C., DiMauro, S. and Manfredi, G. (1999). "A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV." American Journal of Human Genetics 65(3):611-620.

8. Campos, Y., Garcia-Redondo, A., Fernandez-Moreno, M. A., Martinez- Pardo, M., Goda, G., Rubio, J. C., Martin, M. A., del Hoyo, P., Cabello, A., Bornstein, B., Garesse, R. and Arenas, J. (2001). "Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene." Annals of Neurology 50(3):409-413.

9. Campos, Y., Martin, M. A., Rubio, J. C., Gutierrez del Olmo, M. C., Cabello, A. and Arenas, J. (1997). "Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene." Biochemical and Biophysical Research Communications 238(2):323-325.

10. Carrozzo, R., Murray, J., Santorelli, F. M. and Capaldi, R. A. (2000). "The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP synthase when modeled in Escherichia coli." FEBS Letters 486(3):297-299.

11. Chakrapani, A., Heptinstall, L. and Walter, J. (1998). "A family with Leigh syndrome caused by the rarer T8993C mutation." Journal of Inherited Metabolic Disease 21(6):685-686.

12. Ciafaloni, E., Santorelli, F. M., Shanske, S., Deonna, T., Roulet, E., Janzer, C., Pescia, G. and DiMauro, S. (1993). "Maternally inherited Leigh syndrome." Journal of Pediatrics 122(3):419-422.

13 . Clark, K. M., Taylor, R. W., Johnson, M. A., Chinnery, P. F., Chrzanowska-Lightowlers, Z. M., Andrews, R. M., Nelson, I. P., Wood, N. W., Lamont, P. J., Hanna, M. G., Lightowlers, R. N. and Turnbull, D. M. (1999). "An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy." American Journal of Human Genetics 64(5):1330-1339.

14. Comi, G. P., Bordoni, A., Salani, S., Franceschina, L., Sciacco, M., Prelle, A., Fortunato, F., Zeviani, M., Napoli, L., Bresolin, N., Moggio, M., Ausenda, C. D., Taanman, J. W. and Scarlato, G. (1998). "Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease." Annals of Neurology 43(1):110-116.

15. Corona, P., Antozzi, C., Carrara, F., D'Incerti, L., Lamantea, E., Tiranti, V. and Zeviani, M. (2001). "A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients." Annals of Neurology 49(1):106-110.

16. Crimi, M., Galbiati, S., Moroni, I., Bordoni, A., Perini, M. P., Lamantea, E., Sciacco, M., Zeviani, M., Biunno, I., Moggio, M., Scarlato, G. and Comi, G. P. (2003). "A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome." Neurology 60(11):1857-1861.

17. de Coo, I. F., Renier, W. O., Ruitenbeek, W., Ter Laak, H. J., Bakker, M., Schagger, H., Van Oost, B. A. and Smeets, H. J. (1999). "A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome." Annals of Neurology 45(1):130-133.

18. De Vries, D. D., Van Engelen, B. G., Gabreels, F. J., Ruitenbeek, W. and Van Oost, B. A. (1993). "A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome." Annals of Neurology 34(3):410-412.

19. Deschauer, M., Bamberg, C., Claus, D., Zierz, S., Turnbull, D. M. and Taylor, R. W. (2003). "Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA." Neurology 60(8):1357-1359.

20. Dumoulin, R., Sagnol, I., Ferlin, T., Bozon, D., Stepien, G. and Mousson, B. (1996). "A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance." Molecular and Cellular Probes 10(5):389-391.

21. Gattermann, N., Retzlaff, S., Wang, Y. L., Hofhaus, G., Heinisch, J., Aul, C. and Schneider, W. (1997). "Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia." Blood 90(12):4961-4972.

22. Guan, M. X., Enriquez, J. A., Fischel-Ghodsian, N., Puranam, R. S., Lin, C. P., Maw, M. A. and Attardi, G. (1998). "The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression." Molecular and Cellular Biology 18(10):5868-5879.

23. Hanna, M. G., Nelson, I. P., Rahman, S., Lane, R. J., Land, J., Heales, S., Cooper, M. J., Schapira, A. H., Morgan-Hughes, J. A. and Wood, N. W. (1998). "Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA." American Journal of Human Genetics 63(1):29-36.

24. Harding, A. E., Holt, I. J., Sweeney, M. G., Brockington, M. and Davis, M. B. (1992). "Prenatal diagnosis of mitochondrial DNA8993 T-G disease." American Journal of Human Genetics 50(3):629-633.

25. Holt, I. J., Harding, A. E., Petty, R. K. and Morgan-Hughes, J. A. (1990). "A new mitochondrial disease associated with mitochondrial DNA heteroplasmy." American Journal of Human Genetics 46(3):428-433.

26. Jun, A. S., Brown, M. D. and Wallace, D. C. (1994). "A mitochondrial DNA mutation at np 14459 of the ND6 gene associated with maternally inherited Leber's hereditary optic neuropathy and dystonia." Proceedings of the National Academy of Sciences of the United States of America 91(13):6206-6210.

27. Karadimas, C. L., Greenstein, P., Sue, C. M., Joseph, J. T., Tanji, K., Haller, R. G., Taivassalo, T., Davidson, M. M., Shanske, S., Bonilla, E. and DiMauro, S. (2000). "Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA." Neurology 55(5):644-649.

28. Keightley, J. A., Anitori, R., Burton, M. D., Quan, F., Buist, N. R. and Kennaway, N. G. (2000). "Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene." American Journal of Human Genetics 67(6):1400-1410.

29. Keightley, J. A., Hoffbuhr, K. C., Burton, M. D., Salas, V. M., Johnston, W. S., Penn, A. M., Buist, N. R. and Kennaway, N. G. (1996). "A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria." Nature Genetics 12(4):410-416.

30. Kennaway, N. G., Keightley, J. A., Burton, M., Hoffbuhr, K. and Buist, N. R. M. (1995). "Single fiber analysis of muscle from a patient with a microdeletion in the gene for cytochrome c oxidase (COX) subunit III. (Abstract FC084)." EUROMIT III, The Third International Meeting on Human Mitochondrial Pathology, Chantilly, France:64.

31. Kennaway, N. G., Keightley, J. A., Burton, M. D., Quan, F., Libby, B. D. and Buist, N. M. R. (1998). "Mitochondrial encephalomyopathy associated with a nonsense mutation in the cytochrome b (Abstract). In: UCSD Mitochondrial Medicine Conference. San Diego, California, USA. February 19-21, 1998." Molecular Genetics and Metabolism 63(1):49.

32. Kirby, D. M., Kahler, S. G., Freckmann, M. L., Reddihough, D. and Thorburn, D. R. (2000). "Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families." Annals of Neurology 48(1):102-104.

33. Kirby, D. M., McFarland, R., Ohtake, A., Dunning, C., Ryan, M. T., Wilson, C., Ketteridge, D., Turnbull, D. M., Thorburn, D. R. and Taylor, R. W. (2004). "Mutations of the mitochondrial ND1 gene as a cause of MELAS." Journal of Medical Genetics 41(10):784-789.

34. Kollberg, G., Moslemi, A. R., Lindberg, C., Holme, E. and Oldfors, A. (2005). "Mitochondrial myopathy and rhabdomyolysis associated with a novel nonsense mutation in the gene encoding cytochrome c oxidase subunit I." Journal of Neuropathology and Experimental Neurology 64(2):123- 128.

35. Kosel, S., Egensperger, R., Mehraein, P. and Graeber, M. B. (1994). "No association of mutations at nucleotide 5460 of mitochondrial NADH dehydrogenase with Alzheimer's disease." Biochemical and Biophysical Research Communications 203(2):745-749.

36. Lebon, S., Chol, M., Benit, P., Mugnier, C., Chretien, D., Giurgea, I., Kern, I., Girardin, E., Hertz-Pannier, L., de Lonlay, P., Rotig, A., Rustin, P. and Munnich, A. (2003). "Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency." Journal of Medical Genetics 40(12):896-899.

37. Legros, F., Chatzoglou, E., Frachon, P., Ogier De Baulny, H., Laforet, P., Jardel, C., Godinot, C. and Lombes, A. (2001). "Functional characterization of novel mutations in the human cytochrome b gene." European Journal of Human Genetics 9(7):510-518.

38. Lertrit, P., Noer, A. S., Jean-Francois, M. J., Kapsa, R., Dennett, X., Thyagarajan, D., Lethlean, K., Byrne, E. and Marzuki, S. (1992). "A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I." American Journal of Human Genetics 51(3):457-468.

39. Lin, F., Lin, R., Wisniewski, H. M., Hwang, Y., Grundke-Iqbal, I., Healy- Louie, G. and Iqbal, K. (1992). "Detection of point mutations in codon 331 of mitochondrial NADH dehydrogenase subunit 2 in Alzheimer's brains." Biochemical and Biophysical Research Communications 182(1):238-246.

40. Liolitsa, D., Rahman, S., Benton, S., Carr, L. J. and Hanna, M. G. (2003). "Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?" Annals of Neurology 53(1):128-132.

41. Mak, S. C., Chi, C. S. and Tsai, C. R. (1998). "Mitochondrial DNA 8993 T > C mutation presenting as juvenile Leigh syndrome with respiratory failure." Journal of Child Neurology 13(7):349-351.

42. Manfredi, G., Bonilla, E., Schon, E. A., DiMauro, S. and Moraes, C. (1994). "A mitochondrial DNA missense mutation in the cytochrome oxidase subunit III gene associated with a progressive encephalopathy." Miami Short Reports 4:17.

43. Manfredi, G., Schon, E. A., Moraes, C. T., Bonilla, E., Berry, G. T., Sladky, J. T. and DiMauro, S. (1995). "A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene." Neuromuscular Disorders 5(5):391-398.

44. McFarland, R., Taylor, R. W., Chinnery, P. F., Howell, N. and Turnbull, D. M. (2004). "A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis." Neuromuscular Disorders 14(2):162-166.

45. Moslemi, A. R., Darin, N., Tulinius, M., Oldfors, A. and Holme, E. (2005). "Two new mutations in the MTATP6 gene associated with Leigh syndrome." Neuropediatrics 36(5):314- 318.

46. Nakagawa, Y., Ikegami, H., Yamato, E., Takekawa, K., Fujisawa, T., Hamada, Y., Ueda, H., Uchigata, Y., Miki, T., Kumahara, Y. and Ogihara, T. (1995). "A new mitochondrial DNA mutation associated with non-insulin-dependent diabetes mellitus [published erratum appears in Biochem Biophys Res Commun 1995;212(2):718]." Biochemical and Biophysical Research Communications 209(2):664-668.

47. Obayashi, T., Hattori, K., Sugiyama, S., Tanaka, M., Tanaka, T., Itoyama, S., Deguchi, H., Kawamura, K., Koga, Y., Toshima, H., Takeda, N., Nagano, M., Ito, T. and Ozawa, T. (1992). "Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy." American Heart Journal 124(5):1263-1269.

48. Ortiz, R. G., Newman, N. J., Shoffner, J. M., Kaufman, A. E., Koontz, D. A. and Wallace, D. C. (1993). "Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation." Archives of Ophthalmology 111(11):1525-1530.

49. Pandya, A., Xia, X. J., Erdenetungalag, R., Amendola, M., Landa, B., Radnaabazar, J., Dangaasuren, B., Van Tuyle, G. and Nance, W. E. (1999). "Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia." American Journal of Human Genetics 65(6):1803-1806.

50. Petruzzella, V., Chen, X. and Schon, E. A. (1992). "Is a point mutation in the mitochondrial ND2 gene associated with Alzheimer's disease?" Biochemical and Biophysical Research Communications 186(1):491-497.

51. Puddu, P., Barboni, P., Mantovani, V., Montagna, P., Cerullo, A., Bragliani, M., Molinotti, C. and Caramazza, R. (1993). "Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family." British Journal of Ophthalmology 77(2):84-88.

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. Rahman, S., Taanman, J. W., Cooper, J. M., Nelson, I., Hargreaves, I., Meunier, B., Hanna, M. G., Garcia, J. J., Capaldi, R. A., Lake, B. D., Leonard, J. V. and Schapira, A. H. (1999). "A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy." American Journal of Human Genetics 65(4):1030-1039.

54. Ravn, K., Wibrand, F., Hansen, F. J., Horn, N., Rosenberg, T. and Schwartz, M. (2001). "An mtDNA mutation, 14453G-A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome." European Journal of Human Genetics 9(10):805-809.

55. Reid, F. M., Vernham, G. A. and Jacobs, H. T. (1994). "Complete mtDNA sequence of a patient in a maternal pedigree with sensorineural deafness." Human Molecular Genetics 3(8):1435-1436.

56. 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.

57. Sakuta, R., Goto, Y., Nonaka, I. and Horai, S. (1993). "An A-to-G transition at nucleotide pair 11084 in the ND4 gene may be an mtDNA polymorphism." American Journal of Human Genetics 53(4):964-965.

58. Santorelli, F. M., Shanske, S., Jain, K. D., Tick, D., Schon, E. A. and DiMauro, S. (1994). "A T-C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome." Neurology 44(5):972-974.

59. Santorelli, F. M., Shanske, S., Macaya, A., DeVivo, D. C. and DiMauro, S. (1993). "The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome." Annals of Neurology 34:827-834.

60. Santorelli, F. M., Tanji, K., Kulikova, R., Shanske, S., Vilarinho, L., Hays, A. P. and DiMauro, S. (1997). "Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS." Biochemical and Biophysical Research Communications 238(2):326-328.

61. Schuelke, M., Krude, H., Finckh, B., Mayatepek, E., Janssen, A., Schmelz, M., Trefz, F., Trijbels, F. and Smeitink, J. (2002). "Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation." Annals of Neurology 51(3):388-392.

62. 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.

63. Shoffner, J. M., Fernhoff, M. D., Krawiecki, N. S., Caplan, D. B., Holt, P. J., Koontz, D. A., Takei, Y., Newman, N. J., Ortiz, R. G., Polak, M., Ballinger, S. W., Lott, M. T. and Wallace, D. C. (1992). "Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation." Neurology 42(11):2168-2174.

64. Simon, D. K., Friedman, J., Breakefield, X. O., Jankovic, J., Brin, M. F., Provias, J., Bressman, S. B., Charness, M. E., Tarsy, D., Johns, D. R. and Tarnopolsky, M. A. (2003). "A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia." Neurogenetics 4(4):199-205.

65. Solano, A., Roig, M., Vives-Bauza, C., Hernandez-Pena, J., Garcia-Arumi, E., Playan, A., Lopez-Perez, M. J., Andreu, A. L. and Montoya, J. (2003). "Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene." Annals of Neurology 54(4):527-530.

66. Tarnopolsky, M. A., Simon, D. K., Roy, B. D., Chorneyko, K., Lowther, S. A., Johns, D. R., Sandhu, J. K., Li, Y. and Sikorska, M. (2004). "Attenuation of free radical production and paracrystalline inclusions by creatine supplementation in a patient with a novel cytochrome b mutation." Muscle and Nerve 29(4):537-547.

67. Tatuch, Y., Christodoulou, J., Feigenbaum, A., Clarke, J. T. R., Wherret, J., Smith, C., Rudd, N., Petrova-Benedict, R. and Robinson, B. H. (1992). "Heteroplasmic mtDNA mutation (T-G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high." American Journal of Human Genetics 50(4):852-858.

68. Tatuch, Y. and Robinson, B. H. (1993). "The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria." Biochemical and Biophysical Research Communications 192:124-128.

69. 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.

70. Taylor, R. W., Morris, A. A., Hutchinson, M. and Turnbull, D. M. (2002). "Leigh disease associated with a novel mitochondrial DNA ND5 mutation." European Journal of Human Genetics 10(2):141-144.

71. Taylor, R. W., Singh-Kler, R., Hayes, C. M., Smith, P. E. and Turnbull, D. M. (2001). "Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene." Annals of Neurology 50(1):104-107.

72. Temperley, R. J., Seneca, S. H., Tonska, K., Bartnik, E., Bindoff, L. A., Lightowlers, R. N. and Chrzanowska-Lightowlers, Z. M. (2003). "Investigation of a pathogenic mtDNA microdeletion reveals a translation-dependent deadenylation decay pathway in human mitochondria." Human Molecular Genetics 12(18):2341-2348.

73. Thyagarajan, D., Shanske, S., Vazquez-Memije, M., De Vivo, D. and DiMauro, S. (1995). "A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis." Annals of Neurology 38(3):468-472.

74. Tiranti, V., Corona, P., Greco, M., Taanman, J. W., Carrara, F., Lamantea, E., Nijtmans, L., Uziel, G. and Zeviani, M. (2000). "A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome." Human Molecular Genetics 9(18):2733-2742.

75 . Valnot, I., Kassis, J., Chretien, D., de Lonlay, P., Parfait, B., Munnich, A., Kachaner, J., Rustin, P. and Rotig, A. (1999). "A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency." Human Genetics 104(6):460-466.

76. Varlamov, D. A., Kudin, A. P., Vielhaber, S., Schroder, R., Sassen, R., Becker, A., Kunz, D., Haug, K., Rebstock, J., Heils, A., Elger, C. E. and Kunz, W. S. (2002). "Metabolic consequences of a novel missense mutation of the mtDNA CO I gene." Human Molecular Genetics 11(16):1797-1805.

77. Vernham, G. A., Reid, F. M., Rundle, P. A. and Jacobs, H. T. (1994). "Bilateral sensorineural hearing loss in members of a maternal lineage with mitochondrial point mutation." Clinical Otolaryngology 19(4):314-319.

78. 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.

79. Wang, Q., Li, R., Zhao, H., Peters, J. L., Liu, Q., Yang, L., Han, D., Greinwald, J. H., Jr., Young, W. Y. and Guan, M. X. (2005). "Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation." American Journal of Medical Genetics 133A(1):27-30.

80. Wibrand, F., Ravn, K., Schwartz, M., Rosenberg, T., Horn, N. and Vissing, J. (2001). "Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene." Annals of Neurology 50(4):540-543.

81. Wong, L. J., Dai, P., Tan, D., Lipson, M., Grix, A., Sifry-Platt, M., Gropman, A. and Chen, T. J. (2001). "Severe lactic acidosis caused by a novel frame-shift mutation in mitochondrial-encoded cytochrome c oxidase subunit II." American Journal of Medical Genetics 102(1):95-99.
This table is reproduced with permission from PRINCIPLES AND PRACTICE OF MEDICAL GENETICS, 5/e. � 2006 Elsevier Ltd.
Topic revision: r1 - 15 Sep 2015, UnknownUser

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