Mol Genet Metab. 2010 Aug;100(4):345-8. Epub 2010 Apr 24.

Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation.

Tuppen HA, Fehmi J, Czermin B, Goffrini P, Meloni F, Ferrero I, He L, Blakely EL, McFarland R, Horvath R, Turnbull DM, Taylor RW.

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Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle Upon Tyne NE2 4HH, UK.

Abstract

Mutations of the BCS1L gene are a recognised cause of isolated respiratory chain complex III deficiency and underlie several fatal, neonatal mitochondrial 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.

PMID:: 20472482; [PubMed - indexed for MEDLINE]

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Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation.

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