A novel missense mutation in the caveolin-3 gene in rippling muscle disease.
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.
Lorenzoni
Paulo J
PJ
Neuromuscular/Neurology Division, Internal Medicine Department, Hospital de Clínicas, Universidade Federal do Paraná, Rua General Carneiro 181, Curitiba PR 80060-900, Brazil.
Scola
Rosana H
RH
Vieira
Natassia
N
Vainzof
Mariz
M
Carsten
Ana L M
AL
Werneck
Lineu C
LC
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
C417736:CAV3 protein, human; D051244:Caveolin 3; D016189:Dystrophin