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

Evidence-based neurology checklist on limb girdle muscular dystrophy type 2f (lgmd 2f): Genetics This is caused by mutations in the SGCD (δ sarcoglycan) gene on chromosome 5q The onset is from childhood to adulthood Clinical features Differential diagnosis Electrocardiogram (ECG) Muscle biopsy

Genetics

  • This is caused by mutations in the SGCD (δ sarcoglycan) gene on chromosome 5q
  • The onset is from childhood to adulthood

Clinical features

Differential diagnosis

Electrocardiogram (ECG)

Muscle biopsy

References

  1. Passos-Bueno MR, Moreira ES, Vainzof M, Marie SK, Zatz M. Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD. Hum Mol Genet 1996; 5:815-820.
  2. Moreira ES, Vainzof M, Marie SK, Nigro V, Zatz M, Passos-Bueno MR. A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies. J Med Genet 1998; 35:951-953.
  3. Nigro V, de Sá Moreira E, Piluso G, et al. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nat Genet 1996; 14:195-198.

Related checklists

Loading...