Search Ontology:
Human Disease

autosomal recessive limb-girdle muscular dystrophy type 2A

Term ID
DOID:0110275
Synonyms
  • Leyden-Moebius muscular dystrophy
  • LGMD2A
  • limb-girdle muscular dystrophy due to calpain deficiency
  • muscular dystrophy, limb-girdle, type 2A
  • pelvofemoral muscular dystrophy
  • primary calpainopathy
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. https://www.ncbi.nlm.nih.gov/pubmed/7720071
References
Ontology
Human Disease   ( DOID:0110275 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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