Limb girdle muscular dystrophy type 2C (LGMD 2C)

Evidence-based neurology checklist on limb girdle muscular dystrophy type 2c (lgmd 2c): Genetics This is caused by mutations in the SGCG (γ sarcoglycan) gene on chromosome 13q The onset is in childhood Clinical features Differential diagnosis Creatinine kinase (CK) Muscle biopsy: features Synonym

Genetics

  • This is caused by mutations in the SGCG (γ sarcoglycan) gene on chromosome 13q
  • The onset is in childhood

Clinical features

Differential diagnosis

Creatinine kinase (CK)

Muscle biopsy: features

Synonym

References

  1. Al-Zaidy SA, Malik V, Kneile K, et al. A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics. Mol Genet Genomic Med 2015; 3:92-98. 
  2. Wicklund MP, Hilton-Jones D. The limb-girdle muscular dystrophies. Neurology 2003; 60:1230-1231.
  3. Nigro V, Savarese M. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol 2014; 33:1-12. 
  4. Filosto M, Tonin P, Vattemi G, et al. Chronic ophthalmoparesis in limb girdle muscular dystrophy 1C. JNNP 2009; 80:448-449. 
  5. Calvo F, Teijeira S, Fernandez JM, et al. Evaluation of heart involvement in gamma-sarcoglycanopathy (LGMD2C). A study of ten patients. Neuromuscul Disord 2000; 10:560-566.
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