Rippling muscle disease: variable phenotype in a family with five afflicted members

Muscle Nerve. 2010 Jan;41(1):128-32. doi: 10.1002/mus.21446.

Abstract

We report a family with rippling muscle disease (RMD) who had an autosomal dominant mode of inheritance. The father, mother, and one daughter proved to be heterozygous, and two sons were homozygous for the A92T mutation of the caveolin-3 gene. The cardinal features of RMD, particularly percussion-induced rapid contractions, muscle mounding, and muscle rippling, varied considerably among these subjects. Moreover, all examined individuals showed muscle weakness; however, the patterns were inconsistent.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aged
  • Biopsy
  • Caveolin 3 / genetics
  • Caveolin 3 / metabolism
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Electromyography
  • Evoked Potentials, Motor / physiology
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Muscle Contraction / physiology*
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / physiopathology
  • Muscular Diseases / diagnosis
  • Muscular Diseases / genetics*
  • Muscular Diseases / physiopathology
  • Mutation
  • Pedigree
  • Phenotype

Substances

  • CAV3 protein, human
  • Caveolin 3