Lookup NU author(s): Dr Helen Tuppen,
Professor Bobby McFarland,
Professor Rita Horvath,
Emeritus Professor Doug Turnbull,
Professor Robert Taylor
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Mutations of the BCS1L gene are a recognised cause of isolated respiratory chain complex Ill deficiency and underlie several fatal, neonatal mitochondria! diseases. Here we describe a 20-year-old Kenyan woman who initially presented as a floppy infant but whose condition progressed during childhood and adolescence with increasing muscle weakness, focal motor seizures and optic atrophy. Muscle biopsy demonstrated complex III deficiency and the pathogenicity of a novel, homozygous BCS1L mutation was confirmed by yeast complementation studies. Our data indicate that BCS1L mutations can cause a variable, neurological course which is not always fatal in childhood. (C) 2010 Elsevier Inc. All rights reserved.
Author(s): Tuppen HAL, Fehmi J, Czermin B, Goffrini P, Meloni F, Ferrero I, He LP, Blakely EL, McFarland R, Horvath R, Turnbull DM, Taylor RW
Publication type: Article
Publication status: Published
Journal: Molecular Genetics and Metabolism
Print publication date: 01/08/2010
ISSN (print): 1096-7192
ISSN (electronic): 1096-7206
Publisher: Academic Press
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