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References OMIM Gene GeneReviews HGMD HGNC
last update : 22/05/2006
Symbol LGMD2E
Location 4q12
Name limb girdle muscular dystrophy 2E
Corresponding gene SGCB
Other symbol(s) LGMDE, SCARMD3
Main clinical features
  • characterized by early onset, symetrical weakness, atrophy of the proximal limb and trunk muscles and severe dilated cardiomyopathy
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name sarcoglycan, beta, 43kD (SGCB)