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References OMIM Gene GeneReviews HGMD HGNC
last update : 11-03-2009
Symbol LGMD2F
Location 5q33.3
Name limb girdle muscular dystrophy 2F
Corresponding gene SGCD
Main clinical features
  • characterized by early onset, symmetrical weakness, atrophy of the proximal limbs and trunck muscles, and dilated cardiomyopathy associated to myocardial ischemic-like lesions, Brazilian pedigree and other populations
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name sarcoglycan, delta, 35kD (SGCD)