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2 patient data entries in database for mutations W748S and R953C.

allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
Peripheral neuropathy, CPEO, ptosis, COX deficiency, ragged red fibers, headaches/migraines, diarrhoea, lactic acidosis, hypotonia, ataxia, myoclonic seizures, exercise intolerance, muscle weakness, muscle cramps after exercise, optic atrophy, easy fatigability. 61% mtDNA copy number in muscle, 61% mtDNA copy number in blood.
-lactic acidosis
-myoclonic seizures
-movement disorder (ataxia)
-peripheral neuropathy
-optic atrophy
-ragged red fibers
-muscle weakness
-exercise intolerance
-headache/ migraine
n/a51n/aTang et al, 2011;

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Exercise intolerance, muscle weakness, persistent diarrhea, intermittent vomiting, bilateral ptosis, cognitive impairment with poor recall and expressive language difficulty, proximal myopathy, axonal sensorimotor peripheral neuropathy
-peripheral neuropathy
-muscle weakness
-exercise intolerance
n/a50n/aTang 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: 50.5
Std dev in onset in displayed cases: 0.5

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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