has material basis in germline mutation in TRIM32 autosomal recessive limb-girdle muscular dystrophy type 2H https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/autosomal_recessive_limb_girdle_muscular_dystrophy_type_2h https://www.malacards.org/card/muscular_dystrophy_limb_girdle_autosomal_recessive_8 TRIM32 autosomal recessive limb-girdle muscular dystrophy sarcotubular myopathy OMIM:254110 muscular dystrophy limb-girdle type 2H Sarcotubular myopathy UMLS:C0270968 limb-girdle muscular dystrophy type 2H GARD:0003844 SCTID:43226001 DOID:0110282 autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32 Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement. autosomal recessive limb-girdle muscular dystrophy type 2H muscular dystrophy, limb-girdle, type 2H limb-girdle muscular dystrophy due to TRIM32 deficiency LGMD2H ICD9:359.89 MESH:C535897 Orphanet:1878 muscular dystrophy, limb-girdle, autosomal recessive 8 MONDO:0009683 MEDGEN:78750 autosomal recessive limb-girdle muscular dystrophy neuromuscular disease caused by qualitative or quantitative defects of TRIM32