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References OMIM Gene GeneReviews HGMD HGNC
last update : 04-03-2009
Symbol LGMD2G
Location 17q12
Name limb girdle muscular dystrophy 2G
Corresponding gene TCAP
Main clinical features
  • Brazilian type, characterized by early onset, symmetrical weakness, atrophy of the proximal limb and trunck muscles, with rimmed vacuoles and mild evolution
  • Genetic determination autosomal recessive
    Related entries . including isolated cardiomyopathy dilated (CMD1N : OMIM 607487 )
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name sarcomeric protein telethonin