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limb-girdle muscular dystrophy type 2C (LGMD2C)

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)

Database Correlations

OMIM 253700

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