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2 patient data entries in database for mutations A467T and C1188R.

allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
Developmental delay, seizures, abnormal MRI, hypotonia, low in blood.
-developmental delay
n/a3n/aTang et al, 2011;

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developmental delay, prolonged generalized seizure, hypotonia, epilepsia partialis continua, congestive heart failure, respiratory difficulty, autopsy showed enlarged and yellow liver, symmetrical but multifocal ischemic encephalopathy with laminar necrosis and neuronal degeneration in the cerebral cortex, Mitochondrial DNA copy number in blood was 43% of control values
-epilepsia partialis
-developmental delay
-assumed Alpers
0.75n/a1.17Khan et al, 2012;

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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: 2
Avg age of onset in displayed cases: 1.9
Std dev in onset in displayed cases: 1.1

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Allele 1:Allele 2:
Separate multiple mutations with commas.
Use "PNF" for non-missense mutations.
Match: Inclusive Exact
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