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

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Limb girdle muscular dystrophy type 2F (LGMD 2F). This is caused by mutations in the SGCD (δ sarcoglycan) gene on chromosome 5q.

Genetics

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

Clinical features

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Differential diagnosis

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Electrocardiogram (ECG)

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Muscle biopsy

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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.

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