autosomal recessive limb-girdle muscular dystrophy type 2M

Summary

DOID:0110296 - autosomal recessive limb-girdle muscular dystrophy type 2M

Disease Ontology 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.

Synonyms: LGMD2M, MDDGC4, muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

OMIM:

MIM:611588 - muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 4; mddgc4

MIM:611588 - muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 4; mddgc4

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive limb-girdle muscular dystrophy (is_a)