autosomal recessive limb-girdle muscular dystrophy type 2E https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/muscular_dystrophy_limb_girdle_autosomal_recessive_4 autosomal recessive limb-girdle muscular dystrophy type 2E beta-sarcoglycan-related limb-girdle muscular dystrophy R4 muscular dystrophy, limb-girdle, type 2E SGCB autosomal recessive limb-girdle muscular dystrophy MEDGEN:347674 DOID:0110279 beta-sarcoglycanopathy muscular dystrophy limb-girdle with beta-sarcoglycan deficiency beta-sarcoglycan-related LGMD R4 autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCB LGMDR4 Orphanet:119 beta-sarcoglycan limb-girdle muscular dystrophy GARD:0003851 limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency OMIM:604286 Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed. UMLS:C1858593 LGMD due to beta-sarcoglycan deficiency MONDO:0011423 LGMD2E muscular dystrophy, limb-girdle, autosomal recessive 4 LGMD type 2E limb-girdle muscular dystrophy type 2E SCTID:718850008 autosomal recessive limb-girdle muscular dystrophy qualitative or quantitative defects of beta-sarcoglycan familial dilated cardiomyopathy obsolete_autosomal recessive limb-girdle muscular dystrophy type 2E