Term Name: | autosomal recessive limb-girdle muscular dystrophy type 2T |
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Synonyms: | LGMD2T, MDDGC14, muscular dystrophy limb-girdle type 2T, muscular dystrophy-dystroglycanopathy (limb-girdle) type C14, muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related |
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. |
Ontology: | Human Disease [DOID:0110294] ( DOID:0110294 ) |