Limb girdle muscular dystrophy type 1G (LGMD 1G)

Evidence-based neurology checklist on limb girdle muscular dystrophy type 1g (lgmd 1g): Genetics This is caused by mutations in the HNRPDL gene on chromosome 4p21 It is late onset Clinical features Muscle biopsy Acronym

Genetics

  • This is caused by mutations in the HNRPDL gene on chromosome 4p21
  • It is late onset

Clinical features

Muscle biopsy

Acronym

References

  1. Starling A, Kok F, Passos-Bueno MR, Vainzof M, Zatz M. A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21. Eur J Hum Genet 2004; 12:1033-1040. 
  2. Norwood F, de Visser M, Eymard B, et al. EFNS guideline on diagnosis and management of limb girdle muscular dystrophies. Eur J Neurol 2007; 14:1305-1312.
  3. Vieira NM, Naslavsky MS, Licinio L, et al. A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). Hum Mol Genet 2014; 23:4103-4110.

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