期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 55, 期 10, 页码 552-556出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2012.06.002
关键词
CK elevation; Lipid myopathy; 3-Methylglutaconic aciduria; Muscular hypotonia; MELAS syndrome; Mitochondriopathy
资金
- UK NHS
We present two new patients with the recently described mitochondrial m. 3242G > A mutation. Although the mutation is situated next to the well known m.3243A > G mutation, the most common alteration associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome, the clinical presentation is quite different, but characteristic. All three m. 3242G > A patients presented in the neonatal period with hypertrophic and dilated cardiomyopathy, generalized muscle hypotonia and lactic acidosis. Two additionally had creatine kinase elevation, renal tubular acidosis/dysfunction and showed a mild clinical course with a favourable psychomotor development. The third patient had more neurological involvement and died in infancy. The mutation occurred de novo in the two patients where maternal investigations were performed. The combination of hypertrophic cardiomyopathy and renal tubular acidosis/renal tubular dysfunction is clinically distinctive and may represent a separate entity. (C) 2012 Elsevier Masson SAS. 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