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References OMIM Gene GeneReviews HGMD HGNC
last update : 14-12-2021
Symbol LGMD2C
Location 13q12.12
Name limb girdle muscular dystrophy 2C
Other name(s)
  • muscular dystrophy, Duchenne-like
  • adhalin deficiency, secondary
  • Corresponding gene SGCG
    Other symbol(s) SCARMD, SCARMD1
    Main clinical features
  • characterized by early onset, symmetrical weakness, atrophy of the proximal limb and trunck muscles
  • onset before age 5 years, confinement to wheelchair by 12 years, and death usually before age 20 years
  • associated with ECG abnormalities and myocardial right ventricle involvement, severe course, Tunisian (Maghrebin) form (adhalinopathy, secondary to SGCG, gamma sarcoglycan defect)
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name sarcoglycan, gamma, 35kD (SGCG)