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

Evidence-based neurology checklist on limb girdle muscular dystrophy type 2k (lgmd 2k): Genetics This is a dystroglycanopathy It is caused by mutations in the POMT1 gene on chromosome 9q Clinical phentoypes Clinical features Other POMT1 phenotypes Investigations5 Synonym Acronym

Genetics

  • This is a dystroglycanopathy
  • It is caused by mutations in the POMT1 gene on chromosome 9q

Clinical phentoypes

Clinical features

Other POMT1 phenotypes

Investigations5

Synonym

Acronym

References

  1. Nigro V, Savarese M. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol 2014; 33:1-12. 
  2. Mitsuhashi S, Kang PB. Update on the genetics of limb girdle muscular dystrophy. Semin Pediatr Neurol 2012; 19:211-218.
  3. Balci B, Uyanik G, Dincer P, et al. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. Neuromuscul Disord 2005; 15:271-275.
  4. Nalini A, Polavarapu K, Sunitha B, et al. A prospective study on the immunophenotypic characterization of limb girdle muscular dystrophies 2 in India. Neurol India 2015; 63:548-560. 
  5. Bello L, Melacini P, Pezzani R, et al. Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. Eur J Hum Genet 2012; 20:1234-1239. 

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