has material basis in germline mutation in FKRP autosomal recessive limb-girdle muscular dystrophy type 2I https://www.malacards.org/card/muscular_dystrophy_dystroglycanopathy_limb_girdle_type_c_5 A subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported. MESH:C564612 Orphanet:34515 limb-girdle muscular dystrophy due to FKRP deficiency MEDGEN:339580 LGMD2I MONDO:0011787 MDDGC5 LGMD-FKRP related muscular dystrophy-dystroglycanopathy (Limb-girdle) type C, 5 UMLS:C1846672 NCIT:C126739 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 limb-girdle muscular dystrophy type 2I autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP DOID:0110299 SCTID:718180000 FKRP autosomal recessive limb-girdle muscular dystrophy OMIM:607155 GARD:0012533 muscular dystrophy-dystroglycanopathy (limb-girdle), type C5 autosomal recessive limb-girdle muscular dystrophy qualitative or quantitative defects of FKRP myopathy caused by variation in FKRP