Search Ontology:
Human Disease

autosomal recessive limb-girdle muscular dystrophy type 2B

Term ID
DOID:0110276
Synonyms
  • LGMD2B
  • LGMD3
  • limb-girdle muscular dystrophy due to dysferlin deficiency
  • limb-girdle muscular dystrophy type 3
Definition
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13. https://www.ncbi.nlm.nih.gov/pubmed/9731527
References
Ontology
Human Disease   ( DOID:0110276 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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