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14 patient data entries collated from reference Stewart et al, 2009.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
39T251I
P587L2
T251I
P587L2
Mild bilateral ptosis, PEO.
-ptosis
-PEO
adult
n/a41n/a
40A467T2
T251I
P587L2
PEO, ptosis, proximal weakness, multiple mtDNA deletions-LPCR. 25% COX-deficient fibers
-ptosis
-PEO
-proximal weakness
adult
n/a45n/a
80G11D
R852C1
A467T2
Alpers, seizures, abnormal liver function, mild lactic acidosis, normal histology of COX fibers.
-lactic acidosis
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
n/a1.25n/a
84A467T2
A467T2
PEO, ataxia, seizures, encephalopathy, ptosis, sensory neuropathy, mtDNA multiple deletions. 20% COX deficient fibers, 3% ragged red fibers.
-movement disorder (ataxia)
-ragged red fibers
-ptosis
-PEO
-encephalopathy
childhood
n/a12n/a
85A467T2
A467T2
PEO, ataxia, ataxic sensory axonal neuropathy, dysarthria, multiple mtDNA deletions. 10% COX deficient fibers, 2% RRF.
-movement disorder (ataxia)
-demyelinating neuropathy
-PEO
-dysarthria
adult
n/a30n/a
112G848S1
A467T2
Alpers, seizures, developmental delay, liver failure, hypotonia, impaired vision, renal stones, mtDNA depletion in muscle. 5% COX deficient fibers.
-liver failure
-hypotonic
-developmental delay
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
n/a0.7n/a
113L605R2
A467T2
Alpers, seizures, myoclonus, liver failure, elevated serum lactate, COX deficient fibers present in muscle and liver, mtDNA depletion in liver.
-myoclonic seizures
-liver failure
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
n/a1n/a
124W748S5
A467T2
PEO, ataxia, seizures, ptosis, bilateral deafness, myopathy, dysarthria, peripheral neuropathy, multiple mtDNA deletions. 5% COX deficient fibers, 2% RRF.
-movement disorder (ataxia)
-peripheral neuropathy
-myopathy
-ptosis
-PEO
-dysarthria
-bilateral deafness
adult
n/a39n/a
138R597W2
R597W2
Onset 10 years of age presenting as PEO with ataxia, myopathy, exercise intolerance, peripheral neuropathy, dysarthria, GI problems multiple deletions in muscle mtDNA. 1%RRF, 18% COX deficient fibers.
-movement disorder (ataxia)
-peripheral neuropathy
-exercise intolerance
-myopathy
-PEO
-GI problems
-dysarthria
childhood
n/a10n/a
155G848S1
G746S5
E1143G
Ataxia, PEO, axonal neuropathy, cerebellar atrophy. 3% COX deficient fibers.
-movement disorder (ataxia)
-cerebellar atrophy
-demyelinating neuropathy
-PEO
juvenile
n/a16n/a
194R1047W3
A862T1
PEO with ataxia, SCA-like phenotype in siblings, multiple deletions in muscle mtDNA detected via LPCR. 3% COX deficient fibers.
-movement disorder (ataxia)
-PEO
adult
n/a61n/a
520W748S5
E1143G
G11D
R852C1
Alpers, Seizures, Epilepsia partialis continua, liver failure, stroke-like episode.
-epilepsia partialis
-stroke
-liver failure
-Alpers syndrome
-encephalopathy
-developmental delay
infantile
n/a1.33n/a
521G848S1
A467T2
Alpers, Epilepsy, developmental delay, COX deficient fibres.
-epilepsy
-developmental delay
-Alpers syndrome
-encephalopathy
infantile
n/a1n/a
522A467T2
A467T2
Alpers, Encephalopathy, liver failure.
-liver failure
-encephalopathy
-Alpers syndrome
-developmental delay
-epilepsy
infantile
n/a1n/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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