title: A novel missense mutation in the caveolin-3 gene in rippling muscle disease.
abstract: Rippling muscle disease (RMD) is a benign myopathy with symptoms and signs of muscular hyperirritability. We report a 17-year-old patient who presented with muscular hypertrophy, local mounding on percussion, and a rippling phenomenon. Needle electromyography showed electrical silence during the rippling phenomenon. Muscle protein immunohistochemical analysis showed a partial deficiency of caveolin-3. Molecular analysis revealed a novel heterozygous A>C transition at nucleotide position 140 in exon 2 of the caveolin-3 gene. We associated this novel mutation with RMD.
authors.affiliation: Neuromuscular/Neurology Division, Internal Medicine Department, Hospital de Clínicas, Universidade Federal do Paraná, Rua General Carneiro 181, Curitiba PR 80060-900, Brazil.
authors.forename: Paulo J
authors.initials: PJ
authors.lastname: Lorenzoni
authors.forename: Rosana H
authors.initials: RH
authors.lastname: Scola
authors.forename: Natassia
authors.initials: N
authors.lastname: Vieira
authors.forename: Mariz
authors.initials: M
authors.lastname: Vainzof
authors.forename: Ana L M
authors.initials: AL
authors.lastname: Carsten
authors.forename: Lineu C
authors.initials: LC
authors.lastname: Werneck
mesh_terms: D000293:Adolescent; D051244:Caveolin 3 / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000378:metabolism; D005091:Exons; D005260:Female; D006801:Humans; D018482:Muscle, Skeletal / Q000378:metabolism; D009135:Muscular Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D020125:Mutation, Missense
chemical_list: C417736:CAV3 protein, human; D051244:Caveolin 3; D016189:Dystrophin