期刊
NEUROMUSCULAR DISORDERS
卷 20, 期 3, 页码 166-173出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2009.12.005
关键词
Multi-minicore disease (MmD); Periodic paralysis; Excitation-contraction coupling (ECC); Skeletal muscle ryanodine receptor (RYR1) gene
资金
- Muscular Dystrophy Association USA
- National Institute of Health [AR044657, AR018687]
- NSCAG
- Guy's and St. Thomas' Charitable Foundation
- National Institutes of Health Dental and Craniofacial Training Grant [T32DE07202]
- MRC [G0601943] Funding Source: UKRI
- Medical Research Council [G0601943] Funding Source: researchfish
The skeletal muscle ryanodine receptor plays a crucial role in excitation contraction (EC) coupling and is implicated in various congenital myopathies. The periodic paralyses are a heterogeneous, dominantly inherited group of conditions mainly associated with mutations in the SCN4A and the CACNA1S genes. The interaction between RyR1 and DHPR proteins underlies depolarization-induced Ca2+ release during EC coupling in skeletal muscle. We report a 35-year-old woman presenting with signs and symptoms of a congenital myopathy at birth and repeated episodes of generalized, atypical normokalaemic paralysis in her late teens. Genetic studies of this patient revealed three heterozygous RYR1 substitutions (p.Arg2241X, p.Asp708Asn and p.Arg2939Lys) associated with marked reduction of the RyR1 protein and abnormal DHPR distribution. We conclude that RYR1 mutations may give rise to both myopathies and atypical periodic paralysis, and RYR1 mutations may underlie other unresolved cases of periodic paralysis with unusual features. (c) 2010 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