Bae Jong Seok, Ki Chang-Seok, Kim Jong-Won, Suh Yeon-Lim, Park Min Soo, Kim Byung Joon, Kim Sung-Jae
Department of Neurology, Inje University, College of Medicine, Busan, Republic of Korea.
J Neurol Sci. 2007 Sep 15;260(1-2):275-8. doi: 10.1016/j.jns.2007.04.023. Epub 2007 May 23.
Rippling muscle disease (RMD) is a rare form of myopathy that is characterized by percussion-induced rapid muscle contractions, muscle mounding, and rippling. Recently a caveolin-3 gene (CAV3) mutation was identified in patients suffering from autosomal dominant RMD. We encountered a Korean male patient with RMD who had suffered from muscle stiffness for 3 years. Mutation analysis of the CAV3 gene revealed the patient to be heterozygous for a novel in-frame deletion mutation (c.307_312delGTGGTG; Phe103_Phe104del). Further analysis of his family members showed that his mother and elder sister also have the same mutation. To the best of our knowledge, this is the first report of genetically confirmed RMD in Korea.
波纹肌病（RMD）是一种罕见的肌病形式，其特征为叩击诱发的快速肌肉收缩、肌肉隆起和波纹现象。最近，在患有常染色体显性RMD的患者中发现了一种小窝蛋白-3基因（CAV3）突变。我们遇到了一名患有RMD的韩国男性患者，他有3年的肌肉僵硬病史。对CAV3基因的突变分析显示，该患者为一种新型框内缺失突变（c.307_312delGTGGTG；Phe103_Phe104del）的杂合子。对其家庭成员的进一步分析表明，他的母亲和姐姐也有相同的突变。据我们所知，这是韩国首例经基因证实的RMD报告。
