has material basis in germline mutation in FKTN muscular dystrophy-dystroglycanopathy, type C autosomal recessive limb-girdle muscular dystrophy type 2M https://www.malacards.org/card/muscular_dystrophy_dystroglycanopathy_type_c_4 MESH:C566912 MEDGEN:370585 LGMD2M UMLS:C1969040 OMIM:611588 GARD:0012538 LGMD-FKTN related MDDGC4 autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN MONDO:0012699 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 DOID:0110296 Orphanet:206554 limb-girdle muscular dystrophy type 2M FKTN autosomal recessive limb-girdle muscular dystrophy A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases. autosomal recessive limb-girdle muscular dystrophy familial dilated cardiomyopathy myopathy caused by variation in FKTN