Term Name: | autosomal recessive limb-girdle muscular dystrophy type 2I |
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Synonyms: | LGMD2I, Limb-girdle muscular dystrophy due to FKRP deficiency, MDDGC5, muscular dystrophy limb-girdle type 2I, muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5, muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related |
Definition: | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3. |
Ontology: | Human Disease [DOID:0110299] ( DOID:0110299 ) |