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Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene
Author(s) -
Taylor Robert W.,
SinghKler Rajinder,
Hayes Christine M.,
Smith Philip E.M.,
Turnbull Douglass M.
Publication year - 2001
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.1084
Subject(s) - heteroplasmy , mitochondrial dna , missense mutation , genetics , mutation , muscle biopsy , gene , biology , atrophy , mitochondrion , mitochondrial disease , medicine , biopsy , pathology
We describe a 42‐year‐old man who presented with a progressive history of epilepsy, stroke‐like episodes, bilateral optic atrophy, and cognitive decline. Investigation of his muscle biopsy revealed a specific defect in complex I activity. Subsequent analysis of the mitochondrial genome identified a novel heteroplasmic T10191C mutation in the ND3 gene. The mutation was present at lower levels in blood from the patient and unaffected maternal relatives and is the first pathogenic mitochondrial DNA mutation in the ND3 gene to be described.