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

Taylor, Robert W., Singh-Kler, Rajinder, Hayes, Christine M., Smith, Philip E.M. and Turnbull, Douglass M. 2001. Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. Annals of Neurology 50 (1) , pp. 104-107. 10.1002/ana.1084

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Abstract

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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Publisher: Wiley
ISSN: 0364-5134
Date of Acceptance: 28 March 2001
Last Modified: 12 Mar 2021 13:30
URI: http://orca.cardiff.ac.uk/id/eprint/139032

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