has material basis in germline mutation in POPDC1 autosomal recessive limb-girdle muscular dystrophy type 2X https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/autosomal_recessive_limb_girdle_muscular_dystrophy_type_2x https://www.malacards.org/card/muscular_dystrophy_limb_girdle_autosomal_recessive_25 muscular dystrophy, limb-girdle, type 2X GARD:0017847 DOID:0110290 Orphanet:476084 autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome OMIM:616812 autosomal recessive limb-girdle muscular dystrophy caused by mutation in BVES UMLS:C5568138 LGMD2X muscular dystrophy, limb-girdle, type 2x MONDO:0014782 muscular dystrophy, limb-girdle, autosomal recessive 25 MEDGEN:1799561 Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers. BVES autosomal recessive limb-girdle muscular dystrophy autosomal recessive limb-girdle muscular dystrophy