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

Evidence-based neurology checklist on limb girdle muscular dystrophy type 2l (lgmd 2l): Genetics This is caused by mutations in the ANO5 (anoctamin 5) gene on chromosome 11p It is reported in French Canadians The onset is in adult age Males are more frequently affected Clinical features…

Genetics

  • This is caused by mutations in the ANO5 (anoctamin 5) gene on chromosome 11p
  • It is reported in French Canadians
  • The onset is in adult age
  • Males are more frequently affected

Clinical features

Investigations

References

  1. Papadopoulos C, Laforêt P, Nectoux J, et al. HyperCKemia and myalgia are a common presentation of Anoctamin-5 (ANO5)-related myopathy in French patients. Muscle Nerve 2017; doi: 10.1002/mus.25608 (Epub ahead of print).
  2. Nigro V, Savarese M. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol 2014; 33:1-12. 
  3. Mitsuhashi S, Kang PB. Update on the genetics of limb girdle muscular dystrophy. Semin Pediatr Neurol 2012; 19:211-218.
  4. Bushby K. Diagnosis and management of the limb girdle muscular dystrophies. Pract Neurol 2009; 9:314-323. 
  5. Di Fruscio G, Garofalo A, Mutarelli M, Savarese M, Nigro V. Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic? Eur J Hum Genet 2016; 24:73-77. 
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