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11 patient data entries collated from reference Blok et al, 2009.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
2D136E1
Q45R
Epilepsy. Father was heterozygous Q45R and epileptic, Mother was heterozygous D136E and had no symptoms.
-epilepsy
childhood
4n/an/a
17A467T2
R227P4
FTT, died after epilepticus.
-epilepsy
-failure to thrive
infantile
n/an/a1
41A467T2
T251I
P587L2
Exercise intolerance, CPEO, retinitis pigmentosa, diabetes, limb girdle weakness. 2nd patient with cataract and myopathy
-exercise intolerance
-myopathy
-PEO
adult
51n/an/a
66A467T2
S305R3
Alpers, died at age four. Sister also died at age 4 .
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
childhood
n/an/a4
79W748S5
E1143G
A467T2
Ptosis, CPEO, polyneuropathy, cerebellar ataxia, dysarthria.
-cerebellar ataxia
-movement disorder (ataxia)
-polyneuropathy
-ptosis
-PEO
-dysarthria
adult
47n/an/a
90W748S5
A467T2
MELAS-like, features including occipital lobe epilepsy.
-epilepsy
juvenile
19n/an/a
129W748S5
A467T2
Occipital lobe epilepsy, myoclonus, cognitive delay, polyneuropathy, cerebellar ataxia.
-myoclonic seizures
-epilepsy
-cerebellar ataxia
-movement disorder (ataxia)
-polyneuropathy
-cognitive delay
adult
40n/an/a
200A467T2
T914P1
Epilepsy, myoclonus, and developmental delay.
-myoclonic seizures
-epilepsy
-developmental delay
infantile
1n/an/a
204R943H1
Age 71 with CPEO and premature ovarian failure.
-PEO
adult
71n/an/a
212A467T2
A957P1
Epilepsy, liver failure, occipital strokes, and growth retardation, death at age 1.
-epilepsy
-liver failure
-growth retardation
-retardation
-occipital strokes
infantile
n/an/a1
221D1184N1
S1095R3
Failure to thrive, feeding problems, intestinal pseudo-obstruction, congenital deafness, demyelinating sensomotor neurpathy, impaired liver function, death at age 3.
-demyelinating neuropathy
-failure to thrive
-GI dysmotility
infantile
n/an/a3

1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.

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