Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation.
Mol Genet Metab
; 100(4): 345-8, 2010 Aug.
Article
em En
| MEDLINE
| ID: mdl-20472482
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Complexo III da Cadeia de Transporte de Elétrons
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Mitocôndrias
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Mutação
Tipo de estudo:
Risk_factors_studies
Limite:
Adult
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Child
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Female
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Humans
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Infant
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Newborn
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Pregnancy
Idioma:
En
Ano de publicação:
2010
Tipo de documento:
Article