Search Ontology:
Human Disease

autosomal recessive limb-girdle muscular dystrophy type 2E

Term ID
DOID:0110279
Synonyms
  • Beta-sarcoglycanopathy
  • LGMD2E
  • Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency
  • muscular dystrophy, limb-girdle, type 2E
Definition
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12. https://www.ncbi.nlm.nih.gov/pubmed/7581448
References
Ontology
Human Disease   ( DOID:0110279 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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