RIPPLING MUSCLE DISEASE: VARIABLE PHENOTYPE IN A FAMILY WITH FIVE AFFLICTED MEMBERS

被引：7

作者：

Jacobi, Christian ^{[1
]}

Ruscheweyh, Ruth ^{[1
]}

Vorgerd, Matthias ^{[2
]}

Weber, Marc-Andre ^{[3
]}

Storch-Hagenlocher, Brigitte ^{[1
]}

Meinck, Hans Michael ^{[1
]}

机构：

[1] Heidelberg Univ, Dept Neurol, D-69120 Heidelberg, Germany

[2] Ruhr Univ Bochum, Dept Neurol, Bochum, Germany

[3] Heidelberg Univ, Dept Diagnost & Intervent Radiol, Heidelberg, Germany

来源：

MUSCLE & NERVE | 2010年 / 41卷 / 01期

关键词：

rippling muscle disease; homozygous; heterozygous; A92T mutation; phenotype; GIRDLE MUSCULAR-DYSTROPHY; CAVEOLIN-3 GENE MUTATION; LATE SODIUM CURRENT; SKELETAL-MUSCLE; CAV3; GENE;

D O I：

10.1002/mus.21446

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

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. Muscle Nerve 41: 128-132, 2010

引用

页码：128 / 132

页数：5

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