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GENATLAS PHENOTYPE

last update : 18-02-2013

Symbol	LGMD2A
Location	15q15.1
Name	limb girdle muscular dystrophy 2A
Other name(s)	muscular dystrophy, limb-girdle, type 2A muscular dystrophy, pelvofemoral
Corresponding gene	CAPN3
Other symbol(s)	LGMD2
Main clinical features	early onset, symmetrical weakness, atrophy of the proximal limb and trunk muscles, cardiomyopathy Reunion, Amish, Basque type
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
deletion		truncated protein
missense			R49H, T417M and R572W mostly frequent

Remark(s)

has significantly lower levels of dystrophic features (ie degenerating and regenerating fibres) and higher levels of chronic changes (ie lobulated fibres) compared with other LGMDs, particularly LGMD2B eosinophilic infiltration related to CAPN3 mutations is a pathophysiological component of primary calpainopathy (PMID: 21204801))

Genotype/Phenotype correlations

substitution in the IS2 linker domain, leading to severity of the clinical manifestation