has material basis in germline mutation in HNRNPDL autosomal dominant limb-girdle muscular dystrophy type 1G https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/muscular_dystrophy_limb_girdle_autosomal_dominant_3 limb-girdle muscular dystrophy type 1G UMLS:C1836765 Orphanet:55596 GARD:0012531 muscular dystrophy, limb-girdle, autosomal dominant 3 LGMD1G MEDGEN:322993 OMIM:609115 autosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDL MESH:C563794 limb-girdle muscular dystrophy, type 1G DOID:0110306 SCTID:719990003 MONDO:0012193 HNRNPDL autosomal dominant limb-girdle muscular dystrophy Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed. muscular dystrophy, limb-girdle, autosomal dominant