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Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation.
- Source :
-
Molecular genetics and metabolism [Mol Genet Metab] 2010 Aug; Vol. 100 (4), pp. 345-8. Date of Electronic Publication: 2010 Apr 24. - Publication Year :
- 2010
-
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.<br /> (Copyright 2010 Elsevier Inc. All rights reserved.)
- Subjects :
- ATPases Associated with Diverse Cellular Activities
Amino Acid Sequence
Base Sequence
Child
DNA Mutational Analysis
Electron Transport Complex III chemistry
Female
Genetic Complementation Test
Humans
Infant
Infant, Newborn
Molecular Sequence Data
Muscle, Skeletal enzymology
Muscle, Skeletal pathology
Pregnancy
Saccharomyces cerevisiae
Subcellular Fractions enzymology
Survival Analysis
Time Factors
Young Adult
Electron Transport Complex III deficiency
Electron Transport Complex III genetics
Mitochondria enzymology
Mitochondria genetics
Mutation genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1096-7206
- Volume :
- 100
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Molecular genetics and metabolism
- Publication Type :
- Academic Journal
- Accession number :
- 20472482
- Full Text :
- https://doi.org/10.1016/j.ymgme.2010.04.010