波纹状肌肉病：一家五名患者的表型多变。

Rippling muscle disease: variable phenotype in a family with five afflicted members.

机构信息

Department of Neurology, University of Heidelberg, Im Neuenheimer Feld 400, 69120 Heidelberg, Germany.

出版信息

Muscle Nerve. 2010 Jan;41(1):128-32. doi: 10.1002/mus.21446.

PMID:19697367

Abstract

We report a family with rippling muscle disease (RMD) who had an autosomal dominant mode of inheritance. The father, mother, and one daughter proved to be heterozygous, and two sons were homozygous for the A92T mutation of the caveolin-3 gene. The cardinal features of RMD, particularly percussion-induced rapid contractions, muscle mounding, and muscle rippling, varied considerably among these subjects. Moreover, all examined individuals showed muscle weakness; however, the patterns were inconsistent.

摘要

我们报告了一个具有波纹状肌肉病（RMD）的家族，其遗传方式为常染色体显性遗传。父亲、母亲和一个女儿被证实为杂合子，两个儿子则为 caveolin-3 基因突变的 A92T 纯合子。RMD 的主要特征，特别是叩击诱导的快速收缩、肌肉堆积和肌肉波纹状改变，在这些受试者中差异很大。此外，所有受检者均表现出肌肉无力；然而，表现模式不一致。