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21 patient data entries in database for clusters 3 and 3.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
50L304R3
L304R3
Seizures, ptosis, elevated transaminases, lactic acidosis, elevated dopamine, abnormal MRI. 48% mtDNA copy number in muscle, 26% mtDNA copy number in liver.
-lactic acidosis
-ptosis
infantile
n/a4n/aTang et al, 2011;

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683R1096C3
R1096C3
Epilepsy, Cellular depletion, Hepatopathy
-epilepsy
infantile
0.42n/an/aAshley et al, 2008;

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660P1073L3
S305R3
Alpers
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
0.75n/a2Baruffini et al, 2011;

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640Q1236H
R1096C3
R1096C3
Q1236H
developmental delay, dementia, seizures, Alpers, Family history of Alpers syndrome.
-developmental delay
-dementia
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
1n/an/aWong et al, 2008;

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587R1096C3
R1096C3
Alpers. Multifocal therapy-refractory epilepsy. hippocampal sclerosis. COX-negative fibers, reduced mtDNA copy number. mtDNA deletions.
-epilepsy
-cox-negative
-Alpers syndrome
-encephalopathy
-developmental delay
infantile
n/a1n/aStewart et al, 2011;

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477R1096C3
R1096C3
altered sensorium, seizures (requiring ventilation and critical-care management), hypotonia and mild hepatomegaly. Child deteriorated rapidly because of liver failure and died within two weeks of admission. Mainly hepatic failure and central nervous system (CNS) involvement (encephalopathy, seizures), high plasma lactate levels – and family history, a clinical diagnosis of mitochondrial disorder of the mtDNA depletion (Alpers – Huttenlocher syndrome or Pyruvate carboxylase deficiency) was made. mtDNA depletion syndrome.
-liver failure
-hypotonic
-encephalopathy
-Alpers syndrome
-hepatomegaly
-developmental delay
-epilepsy
infantile
0.30.60.6Bijarnia-Mahay et al, 2014;

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226Q1236H
R1096C3
Q1236H
R1096C3
Onset at 2 years with encephalopathy, hepatopathy, and myoclonus achalasia. Diagnosed as Alpers.
-myoclonic seizures
-encephalopathy
-Alpers syndrome
-developmental delay
-epilepsy
infantile
2n/an/aHorvath et al, 2006;

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223R1096C3
R1096C3
Seizures, liver failure.
-liver failure
infantile
n/a1n/aTang et al, 2011;

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224R1096C3
R1096C3
Developmental delay, seizure, lactic acidosis, elevated transaminases. 50% mtDNA copy number in blood.
-lactic acidosis
-developmental delay
infantile
n/a2n/aTang et al, 2011;

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225R1096C3
R1096C3
Seizures, dementia/encephalopathy. 56% mtDNA copy number in blood.
-encephalopathy
-dementia
infantile
n/a0.8n/aTang et al, 2011;

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685L304R3
L304R3
Relatively Mild phenotype
-no known symptoms
childhood
10n/an/aAshley et al, 2008;

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63R1081P3
L304R3
Age 10, encephalopathy, ataxia, seizures, myoclonic seizures, pyramidal signs, dystonia, choria, muscle weakness, CPEO, ptosis, elevated alanine, abnormal EEG, MRS/lactate peak. 79% mtDNA copy number in blood.
-myoclonic seizures
-movement disorder (ataxia)
-muscle weakness
-ptosis
-PEO
-encephalopathy
-dystonia
childhood
n/a10n/aTang et al, 2011;

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57L304R3
L304R3
Peripheral neuropathy, exercise intolerance, muscle weakness, abnormal EMG/NCV, ptosis, lactic acidosis, COX deficiency, CPEO. 58% mtDNA copy number in blood.
-lactic acidosis
-peripheral neuropathy
-muscle weakness
-exercise intolerance
-ptosis
-PEO
childhood
n/a9n/aTang et al, 2011;

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56L304R3
L304R3
Peripheral neuropathy exercise intolerance, easy fatigability, CPEO, abnormal EMG/NCV, ptosis, lactic acidosis, CPK abnormalities, short stature, FTT, abnormal VERS, developmental delay, abnormal respiratory enzymes, ragged red fibers. 37% mtDNA copy number in muscle, 20% mtDNA copy number in blood.
-lactic acidosis
-peripheral neuropathy
-ragged red fibers
-exercise intolerance
-ptosis
-PEO
-failure to thrive
-developmental delay
-CPK abnormalities
childhood
n/a12n/aTang et al, 2011;

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55L304R3
L304R3
CPEO, ptosis, ataxia, abnormal EMG/NCV, cerebellar atrophy, large mitochondrial proliferation, ragged red fibers, easy fatigability, abnormal muscle histology, hypotonia, lactic acidosis, high CSF lactate, organic aciduria/tiglyglycine, low plasma carnitine. 36% mtDNA copy number in muscle, 22% mtDNA copy number in blood.
-lactic acidosis
-movement disorder (ataxia)
-cerebellar atrophy
-abnormal muscle histology
-ragged red fibers
-ptosis
-PEO
-hypotonic
childhood
n/a9n/aTang et al, 2011;

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51L304R3
L304R3
CPEO, muscle weakness, ptosis, ataxia. 53% mtDNA copy number in blood.
-movement disorder (ataxia)
-muscle weakness
-ptosis
-PEO
childhood
n/a10n/aTang et al, 2011;

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418R309C3
R309C3
Peripheral neuropathy, PEO, ataxia, myopathy, fatty liver, pigmentary neuropathy, strokes, epilepsy, dysarthria-dysphonia
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
-myopathy
-PEO
-dysarthria
juvenile
14n/a22Amiot et al, 2009;

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58L304R3
L304R3
Peripheral neuropathy exercise intolerance, muscle weakness, easy fatigability, abnormal EMG/NCV, ptosis, CPK abnormalities, short stature, abnormal muscle histology, ragged red fibers, elevated pyruvate. 45% mtDNA copy number in blood.
-peripheral neuropathy
-abnormal muscle histology
-ragged red fibers
-muscle weakness
-exercise intolerance
-ptosis
-CPK abnormalities
juvenile
n/a23n/aTang et al, 2011;

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69W312R3
W312R3
PEO, sensory-motor polyneuropathy, dysphagia.
-polyneuropathy
-sensomotor neuropathy
-PEO
-dysphagia
adult
57n/an/aDi Fonzo et al, 2003;

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598G268A3
G268A3
PEO, complicated by dysphagia, my- opathy, neuropathy pigmentary retinopathy and amenorrhea.
-PEO
-dysphagia
adult
n/a32n/aDel Bo et al, 2003;

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599W312R3
W312R3
PEO, complicated by dysphagia, myopathy, sensorimotor polyneuropathy and dysphagia.
-polyneuropathy
-axonal sensorimotor polyneuropathy
-myopathy
-PEO
-dysphagia
adult
n/a57n/aDel Bo et al, 2003;

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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.

Number of displayed patient cases: 21
Avg age of onset in displayed cases: 12.2
Std dev in onset in displayed cases: 16.6

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Patients for cluster combinations:
First cluster: Second cluster:
Age group: Any Infantile Childhood Juvenile Adult
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