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Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene

Lookup NU author(s): Professor Robert Taylor, Dr Rajinder Singh-Kler, Christine Hayes, 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.

Publication metadata

Author(s): Taylor RW, Singh-Kler R, Hayes CM, Smith PEM, Turnbull DM

Publication type: Article

Publication status: Published

Journal: Annals of Neurology

Year: 2001

Volume: 50

Issue: 1

Pages: 104-107

ISSN (print): 0364-5134

ISSN (electronic): 1531-8249

Publisher: John Wiley & Sons, Inc.


DOI: 10.1002/ana.1084

PubMed id: 11456298


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