OBO ID: DOID:0110296
Term Name: autosomal recessive limb-girdle muscular dystrophy type 2M Search Ontology:
Synonyms:
  • LGMD2M
  • MDDGC4
  • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31. https://www.ncbi.nlm.nih.gov/pubmed/17044012
References:
Ontology: Human Disease   ( DOID:0110296 )
OTHER autosomal recessive limb-girdle muscular dystrophy type 2M PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FKTN Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None