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

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

Limb girdle muscular dystrophy type 2L (LGMD 2L). This is caused by mutations in the ANO5 (anoctamin 5) gene on chromosome 11p.

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

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Investigations

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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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