Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Biochem Biophys Res Commun. 2011 Aug 26;412(2):245-8. doi: 10.1016/j.bbrc.2011.07.076. Epub 2011 Jul 27.
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.
Leigh 综合征（LS）是一种无法治愈的、几乎总是致命的神经退行性儿科疾病，由呼吸链衰竭引起。导致 LS 的最常见线粒体 DNA（mtDNA）突变是 m.8993T→C/G 和 m.9176T→C/G，先前在几个早发性 Leigh 综合征患者中发现了这两种突变。在这里，我们描述了一个新的家系的临床和分子特征，其中两个兄弟姐妹都患有 Leigh 综合征。先证者是一名年轻女性，患有不寻常的成人起病 Leigh 综合征。她的肌肉活检分析显示存在同质型 m.9176T→C 突变。相比之下，她的弟弟在很年轻时就去世了。这个新的病例报告和文献综述强调了 m.9176T→C 突变表型表达的可变性。
