Catalog

Limb-girdle muscular dystrophy 2L, AN05 gene mutation

No MMS code

Link to WHO Definition

Limb-girdle muscular dystrophy 2L, AN05 gene mutation – http://id.who.int/icd/entity/2062556044

Limb-girdle muscular dystrophy-2L (LGMD2L) is caused by homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14. Miyoshi muscular dystrophy-3 is also caused by mutation in the ANO5 gene. Age at onset ranges from 11 to 50 years. The majority of patients report muscle pain. Although the severity of the phenotype is variable, all affected individuals have prominent weakness and atrophy of the quadriceps femoris muscles, often with asymmetric involvement.