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

被引：28

作者：

Tuppen, Helen A. L. ^{[1
]}

Fehmi, Janev ^{[1
]}

Czermin, Birgit ^{[2
]}

Goffrini, Paola ^{[3
]}

Meloni, Francesca ^{[3
]}

Ferrero, Iliana ^{[3
]}

He, Langping ^{[1
]}

Blakely, Emma L. ^{[1
]}

McFarland, Robert ^{[1
]}

Horvath, Rita ^{[1
]}

Turnbull, Douglass M. ^{[1
]}

Taylor, Robert W. ^{[1
]}

机构：

[1] Newcastle Univ, Sch Med, Mitochondrial Res Grp, Inst Ageing & Hlth, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England

[2] Med Genet Zentrum Munchen, D-80335 Munich, Germany

[3] Univ Parma, Dept Genet Biol Microrganisms Anthropol & Evolut, I-43124 Parma, Italy

来源：

MOLECULAR GENETICS AND METABOLISM | 2010年 / 100卷 / 04期

基金：

英国惠康基金;

关键词：

Mitochondrial disease; Complex III; BCS1L mutation; Complex assembly; Yeast complementation studies; PROTEIN; ENCEPHALOPATHY; YEAST;

D O I：

10.1016/j.ymgme.2010.04.010

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：345 / 348

页数：4

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