Disease

autosomal recessive limb-girdle muscular dystrophy type 2A

Definition

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15.

Synonyms

Leyden-Moebius muscular dystrophy
LGMD2A

Cross References

Parent Terms

autosomal recessive limb-girdle muscular dystrophy

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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