期刊
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
卷 412, 期 2, 页码 245-248出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.bbrc.2011.07.076
关键词
Leigh's disease; Leigh disease maternally inherited; Mitochondrial disease; MT-ATP6 protein
资金
- Associazione Amici del Centro Dino Ferrari
- Telethon [GUP09004, GTB07001]
- University of Milan
- Eurobiobank [QLTR-2001-02769, R.F. 02.187]
Leigh syndrome (LS) is an incurable, nearly always fatal, neurodegenerative, pediatric disorder that results from respiratory chain failure. The most common mitochondrial DNA (mtDNA) mutations that result in LS are m.8993T -> C/G and m.9176T -> C/G, which were previously found in several patients with early-onset Leigh syndrome. Here, we describe clinical and molecular features of a novel pedigree, where LS developed in two siblings. The proband was a young woman with an unusual adult-onset LS. She harbored a homoplasmic m.9176T -> C mutation, based on analysis of a muscle biopsy. In contrast, the brother died at a young age. This novel case report and literature review highlights the variability of phenotypic expression of the m.9176T -> C mutation. (C) 2011 Elsevier Inc. All rights reserved.
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