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A novel in-frame deletion in the CAV3 gene in a Korean patient with rippling muscle disease |
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| Authors: | Bae Jong Seok Ki Chang-Seok Kim Jong-Won Suh Yeon-Lim Park Min Soo Kim Byung Joon Kim Sung-Jae |
| Affiliation: | aDepartment of Neurology, Inje University, College of Medicine, Busan, Republic of Korea bDepartment of Laboratory Medicine, Sungkyunkwan University School of Medicine, Samsung Medical Center, Republic of Korea cDepartment of Pathology, Sungkyunkwan University School of Medicine, Samsung Medical Center, Republic of Korea dDepartment of Neurology, Sungkyunkwan University School of Medicine, Samsung Medical Center, 50 Irwon-Dong, Gangnam-Gu, Seoul 135-710, Republic of Korea eDepartment of Neurology, Pocheon CHA University College of Medicine, Gumi CHA General Hospital, Republic of Korea |
| Abstract: | 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. |
| Keywords: | Rippling muscle disease CAV3 Mutation Asian Korean |
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