期刊
NEUROMUSCULAR DISORDERS
卷 21, 期 11, 页码 803-808出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2011.06.005
关键词
Mitochondrial energy metabolism; ATP synthesis; Mutually exclusive alternative splicing; Cardiomyopathy; Muscular hypotonia
资金
- Oesterreichische Nationalbank-Jubilaumsfonds [12568]
- Vereinigung zur Padiatrischen Forschung und Fortbildung Salzburg
- Medical Research Council [G1000848] Funding Source: researchfish
- MRC [G1000848] Funding Source: UKRI
In a family three children presented with severe neonatal lactic acidosis, hypertrophic cardiomyopathy and generalised muscular hypotonia. One child died in infancy, two survived a clinically severe neonatal period. At an age of 9 and 17 years, respectively, they present with exercise intolerance, proximal muscle weakness, non-progressive hypertrophic cardiomyopathy and normal mental development. In a muscle biopsy normal activity of respiratory chain enzymes was found; however the amount of the mitochondrial phosphate carrier was decreased. This protein is expressed in two tissue-specific isoforms generated by mutually exclusive alternative splicing of the SLC25A3 gene transcript. We identified a homozygous mutation c.158-9A>G located in the 5'-intron next to exon 3A specific for heart and skeletal muscle. This creates a novel splice site resulting in a more than 95% decrease of the wild type allele. (C) 2011 Elsevier B.V. All rights reserved.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据