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last update : 28-03-2012
Symbol LGMD2D
Location 17q21
Name limb girdle muscular dystrophy 2D
Other name(s)
  • Duchenne-like autosomal recessive muscular dystrophy, type 2
  • adhalinopathy, primary
  • Corresponding gene SGCA
    Other symbol(s) SCARMD2, DMDA2
    Main clinical features
  • early onset, symetrical weakness, atrophy of the proximal limb and trunk muscles, with/without cardiomyopathy (adhalinopathy)
  • age of onset is variable, although, in most cases, first symptoms appear around the 20s, and progression of muscle weakness is also variable
  • Genetic determination autosomal recessive
    Related entries incuding cases of congenital muscular dystrophy
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name sarcoglycan, alpha, 50kD (SGCA)
    Remark(s) R77C allele encodes a protein that fails to be delivered to its proper cellular localization in the plasma membrane, and consequently to the disappearance of a positively charged residue