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Lookup NU author(s): Professor Robert Taylor,
Dr Rajinder Singh-Kler,
Emeritus Professor Doug Turnbull
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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.
Author(s): Taylor RW, Singh-Kler R, Hayes CM, Smith PEM, Turnbull DM
Publication type: Article
Publication status: Published
Journal: Annals of Neurology
ISSN (print): 0364-5134
ISSN (electronic): 1531-8249
Publisher: John Wiley & Sons, Inc.
PubMed id: 11456298
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