Department of Neuroscience, Neurology, University Hospital, Uppsala University SE-751 85 Uppsala, Sweden.
Muscle Nerve. 2010 Jun;41(6):751-7. doi: 10.1002/mus.21589.
Thirty-nine members, ages 1 to 67 years, of a Swedish family with rippling muscle disease (RMD) were investigated to assess genotype-phenotype correlations. Clinical, neurophysiological, and muscle morphological examinations were performed. Genetic analysis was performed in 38 individuals. Twenty-three patients had percussion-induced muscle mounding (PIMM) and percussion-induced rapid contractions (PIRC). Rippling and hyperCKemia were not found in all patients. Weakness was minor or absent. The electromyogram showed absence of electrical activity in ripples and PIMM, and muscle biopsy specimens confirmed caveolin-3 deficiency and absence of caveolae. Genetic analysis revealed a CAV3 c.G136A transition resulting in a p.A46T missense mutation in affected family members. The phenotype in these 23 cases of RMD with this mutation appears to be homogenous, benign, and nonprogressive. The presence of PIMM and PIRC seems to be diagnostic at all ages, whereas the absence of hyperCKemia and rippling does not exclude the diagnosis.
39 名年龄 1 至 67 岁的瑞典 rippling 肌肉疾病（RMD）家系成员接受了调查，以评估基因型-表型相关性。进行了临床、神经生理学和肌肉形态学检查。对 38 名个体进行了基因分析。23 名患者有敲击诱导性肌肉隆起（PIMM）和敲击诱导性快速收缩（PIRC）。并非所有患者都存在波纹和高肌酸激酶血症。肌无力程度较轻或不存在。肌电图显示波纹和 PIMM 中无电活动，肌肉活检标本证实窖蛋白-3 缺乏和小窝缺失。基因分析显示 CAV3 c.G136A 转换导致受影响家族成员中出现 p.A46T 错义突变。具有这种突变的 23 例 RMD 的表型似乎是同质的、良性的和非进行性的。PIMM 和 PIRC 的存在似乎在所有年龄段都具有诊断意义，而高肌酸激酶血症和波纹的缺失并不能排除诊断。
