期刊
MOLECULAR GENETICS AND METABOLISM
卷 100, 期 4, 页码 345-348出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2010.04.010
关键词
Mitochondrial disease; Complex III; BCS1L mutation; Complex assembly; Yeast complementation studies
资金
- Fondazione Telethon-Italy [GGP07019]
- Wellcome Trust Programme [074454/Z/04/Z]
- UK National Commissioning Group
- MRC [G0800674, G0601943] Funding Source: UKRI
- Medical Research Council [G0601943B, G0800674, G0601943] Funding Source: researchfish
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.
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