Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 5 - CISMeF
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 5NCIt concept
Preferred Label : Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 5;
NCIt synonyms : MDDGC5; LGMD2I; Limb-Girdle Muscular Dystrophy Type 2I;
NCIt definition : An autosomal recessive inherited limb-girdle muscular dystrophy caused by mutations
in the gene encoding fukutin-related protein (FKRP). It is characterized by variable
age at onset, normal cognition, and no structural brain changes.;