Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene
Version of Record online: 25 MAY 2001
Copyright © 2001 Wiley-Liss, Inc.
Annals of Neurology
Volume 50, Issue 1, pages 104–107, July 2001
How to Cite
Taylor, R. W., Singh-Kler, R., Hayes, C. M., Smith, P. E.M. and Turnbull, D. M. (2001), Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. Ann Neurol., 50: 104–107. doi: 10.1002/ana.1084
- Issue online: 26 JUN 2001
- Version of Record online: 25 MAY 2001
- Manuscript Accepted: 28 MAR 2001
- Manuscript Revised: 22 MAR 2001
- Manuscript Received: 27 NOV 2000
- Wellcome Trust
- Muscular Dystrophy Campaign
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.