title: A novel in-frame deletion in the CAV3 gene in a Korean patient with rippling muscle disease.
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.
authors.affiliation: Department of Neurology, Inje University, College of Medicine, Busan, Republic of Korea.
authors.forename: Jong Seok
authors.initials: JS
authors.lastname: Bae
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Jong-Won
authors.initials: JW
authors.lastname: Kim
authors.forename: Yeon-Lim
authors.initials: YL
authors.lastname: Suh
authors.forename: Min Soo
authors.initials: MS
authors.lastname: Park
authors.forename: Byung Joon
authors.initials: BJ
authors.lastname: Kim
authors.forename: Sung-Jae
authors.initials: SJ
authors.lastname: Kim
mesh_terms: D000328:Adult; D044466:Asian People / Q000208:ethnology / Q000235:genetics; D051244:Caveolin 3 / Q000235:genetics*; D004252:DNA Mutational Analysis; D004576:Electromyography; D005260:Female; D017353:Gene Deletion; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D007723:Korea / Q000208:ethnology; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000503:physiopathology; D009135:Muscular Diseases / Q000208:ethnology / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D016366:Open Reading Frames / Q000235:genetics; D010375:Pedigree; D013016:Sound / Q000009:adverse effects
chemical_list: C417736:CAV3 protein, human; D051244:Caveolin 3; D005819:Genetic Markers