autosomal recessive limb-girdle muscular dystrophy type 2T (DOID:0110294)
Alliance: disease page
Synonyms: LGMD2T; MDDGC14; muscular dystrophy limb-girdle type 2T; muscular dystrophy-dystroglycanopathy (limb-girdle) type C14; muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related
Alt IDs: OMIM:615352, ICD10CM:G71.0, ORDO:363623
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21.