Tuppen HA, et al. (2010) Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation. Mol Genet Metab 100(4):345-8
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.CI - Copyright (c) 2010 Elsevier Inc. All rights reserved.
|Status: Published||Type: Journal Article||PubMed ID: 20472482|
Topics addressed in this paper
- To go to the Locus page for a gene, click on the gene name.
|Non-Fungal Related Genes/Proteins|