limb-girdle muscular dystrophy type 2A (LGMD2A)
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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
More general terms
References
- ↑ Lim LE et al Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet 11:257-265 1995 PMID: https://www.ncbi.nlm.nih.gov/pubmed/7581448
- ↑ Beckman JS et al C R Acad Sci Paris 312:141-8 1991
- ↑ OMIM https://mirror.omim.org/entry/253600