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last update : 25-02-2009
Symbol RMD2
Location 3p25
Name rippling muscle disease 2
Other name(s)
  • caveolin 3 deficiency
  • limb-girdle muscular dystrophy
  • Corresponding gene CAV3
    Other symbol(s) RMD
    Main clinical features
  • increased muscle irritability and/or electrically silent muscle contractions (rippling muscle)
  • Genetic determination autosomal dominant
    autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name caveolin 3
    Genotype/Phenotype correlations caveolin-3 deficiency or caveolinopathies includes five phenotypes, which can be seen in different members of the same family: Limb-Girdle Muscular Dystrophy 1C [LGMD1C, MIM : 607801] CAV3-Related Isolated HyperCKemia [MIM : 123320], CAV3-Related Rippling Muscle Disease [RMD, MIM : 606072], CAV3-Related Distal Myopathy, CAV3-Related Hypertrophic Cardiomyopathy [CMH, MIM : 192600]