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22 patient data entries collated from reference Horvath et al, 2006.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
12T251I
P587L2
R227W4
PEO
-PEO
adult
n/a48n/a
23T251I
P587L2
T251I
P587L2
PEO with myopathy, chronic bronchitis.
-myopathy
-PEO
-chronic bronchitis
adult
n/a63n/a
30V1106I1
T251I
P587L2
PEO with myopathy
-myopathy
-PEO
adult
35n/an/a
37T251I
P587L2
T251I
P587L2
PEO with myopathy
-myopathy
-PEO
adult
7062n/a
38P587L2
T251I
P587L2
T251I
PEO with myopathy
-myopathy
-PEO
adult
56n/an/a
42L304R3
T251I
P587L2
PEO, myopathy, ataxia.
-movement disorder (ataxia)
-myopathy
-PEO
adult
7445n/a
43L304R3
T251I
P587L2
PEO, Neuropathy. Affect sibling.
-PEO
adult
6860n/a
67R627Q5
R309H3
Onset at 0.5 years with encephalopathy and hepatopathy. Diagnosed as alpers. Death at 1.3 years
-encephalopathy
-Alpers syndrome
-developmental delay
-epilepsy
infantile
n/a0.51.3
68R574W2
W312R3
PEO +dysphagia/myopathy.
-myopathy
-PEO
-dysphagia
adult
n/a37n/a
104T914P1
A467T2
Onset at 4 years with encephalopathy, myoclonus, and SLE.
-myoclonic seizures
-encephalopathy
childhood
84n/a
105T914P1
A467T2
Onset at 1.5 years with encephalopathy and hepatopathy and cortical blindness. Diagnosed as Alpers.
-encephalopathy
-cortical blindness
-Alpers syndrome
-developmental delay
-epilepsy
infantile
21.5n/a
108K1191N1
A467T2
Onset at .5 years with encephalopathy, liver dysfunction, cardiopathy, diagnosed as Alpers, death at 1.3 years.
-liver dysfunction
-encephalopathy
-cardiopathy
-Alpers syndrome
-developmental delay
-epilepsy
infantile
n/a0.51.3
115R627W5
A467T2
Onset at 32 years with encephalopathy, PEO, ataxia, dysphagia, myopathy, neuropathy and cardiomyopathy, hearing loss. Death at 41 years.
-movement disorder (ataxia)
-myopathy
-PEO
-encephalopathy
-dysphagia
-hearing loss
adult
n/a3241
116R627W5
A467T2
PEO, SANDO (Horvath 2006 or Van goethem 2003) sensory ataxic neuropathy, PEO, dysarthria.
-sensory ataxia
-PEO
-dysarthria
adult
n/a20n/a
117R627W5
A467T2
Onset at 39 years with PEO, ataxia, myopathy, and hearing loss.
-movement disorder (ataxia)
-myopathy
-PEO
-hearing loss
adult
n/a39n/a
122W748S5
A467T2
Onset at 34 years with PEO, ataxia, dysphagia, myopathy, neuropathy and Diabetes.
-movement disorder (ataxia)
-myopathy
-PEO
-dysphagia
adult
n/a34n/a
143R1096H3
R627Q5
Onset at 7 years with encephalopathy, hepatopathy, and SLE seizures. Diagnosed as alpers. Death at 8 years.
-encephalopathy
-Alpers syndrome
-developmental delay
-epilepsy
childhood
n/a78
148P648R5
P648R5
Onset at 25 years with PEO, ataxia, dysphagia, myopathy, and thyroid disease.
-movement disorder (ataxia)
-myopathy
-PEO
-dysphagia
adult
n/a25n/a
149R1096C3
P648R5
Onset at 53 years with PEO, neuropathy.
-PEO
adult
n/a53n/a
151A767D2
G737R5
Onset at 0.8 years with encephalopathy, liver dysfunction, diagnosed as Alpers. Death at 1 year.
-liver dysfunction
-encephalopathy
-Alpers syndrome
-developmental delay
-epilepsy
infantile
n/a0.81
226R1096C3
Q1236H
R1096C3
Q1236H
Onset at 2 years with encephalopathy, hepatopathy, and myoclonus achalasia. Diagnosed as Alpers.
-myoclonic seizures
-encephalopathy
-Alpers syndrome
-developmental delay
-epilepsy
infantile
n/a2n/a
230T914P1
F1164L1
Q308H3
PEO with myopathy
-myopathy
-PEO
childhood
1410n/a

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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