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GENATLAS PHENOTYPE
last update : 18-02-2013
Symbol LGMD2A
Location 15q15.1
Name limb girdle muscular dystrophy 2A
Other name(s)
  • muscular dystrophy, limb-girdle, type 2A
  • muscular dystrophy, pelvofemoral
  • Corresponding gene CAPN3
    Other symbol(s) LGMD2
    Main clinical features
  • early onset, symmetrical weakness, atrophy of the proximal limb and trunk muscles, cardiomyopathy
  • Reunion, Amish, Basque type
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   truncated protein  
    missense     R49H, T417M and R572W mostly frequent
    Remark(s)
  • has significantly lower levels of dystrophic features (ie degenerating and regenerating fibres) and higher levels of chronic changes (ie lobulated fibres) compared with other LGMDs, particularly LGMD2B
  • eosinophilic infiltration related to CAPN3 mutations is a pathophysiological component of primary calpainopathy (PMID: 21204801))
  • Genotype/Phenotype correlations
  • substitution in the IS2 linker domain, leading to severity of the clinical manifestation