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limb-girdle muscular dystrophy type 2A (LGMD2A)

Genetics: - autosomal dominant & autosomal recessive forms - associated with defects in CAPN3 (muscle-specific calpain) Clinical manifestations: - progressive symmetrical atrophy - weakness of the proximal limb muscles - symptoms usually begin during the first two decades of life - symptoms gradually worsen, often resulting in loss of ability to walk 10-20 years after onset Laboratory: - elevated serum creatine kinase

Database Correlations

OMIM 253600

References

  1. Lim LE et al Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet 11:257-265 1995 PMID: 7581448
  2. Beckman JS et al C R Acad Sci Paris 312:141-8 1991
  3. OMIM :accession 253600