OBO ID: DOID:0110290
Term Name: autosomal recessive limb-girdle muscular dystrophy type 2X Search Ontology:
Synonyms:
  • LGMD2X
  • muscular dystrophy, limb-girdle, type 2X
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21.https://www.ncbi.nlm.nih.gov/pubmed/26642364
References:
Ontology: Human Disease   (DOID:0110290)
Relationships
is a type of:
OTHER autosomal recessive limb-girdle muscular dystrophy type 2X PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
BVES ?Cardiac arrhythmia with increased serum creatine kinase 616812
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None