limb-girdle muscular dystrophy type 2C (LGMD2C)
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Genetics
- associated with defects in SGCG (gamma-sarcoglycan)
Clinical manifestations
- progressive muscle wasting from early childhood
- phenotype is more severe than LGMD2D (limb-girdle muscular dystrophy type 2D)
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