has material basis in germline mutation in TNPO3 autosomal dominant limb-girdle muscular dystrophy type 1F https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/muscular_dystrophy_limb_girdle_autosomal_dominant_2 OMIM:608423 limb-girdle muscular dystrophy type 1F UMLS:C1842062 Orphanet:55595 DOID:0110304 MEDGEN:333983 SCTID:719989007 Autosomal dominant limb-girdle muscular dystrophy type 1F (LGMD1F) is a subtype of autosomal dominant limb-girdle muscular dystrophy,with a variable age of onset, characterized by progressive, proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle, and especially the ileopsoas muscle, being more affected) and frequent association of calf hypertrophy, dysphagia, arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait, exercise intolerance, myalgia, fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed. muscular dystrophy, limb-girdle, type 1F MONDO:0012034 GARD:0012530 LGMD1F MESH:C564242 muscular dystrophy, limb-girdle, autosomal dominant 2 muscular dystrophy, limb-girdle, autosomal dominant