has material basis in germline mutation in GYS1 disorder of glycogen metabolism glycogen storage disease due to muscle and heart glycogen synthase deficiency https://github.com/monarch-initiative/mondo/issues/4985 https://www.malacards.org/card/glycogen_storage_disease_0_muscle https://www.malacards.org/card/glycogen_storage_disease_due_to_muscle_and_heart_glycogen_synthase_deficiency OMIM:611556 heart glycogen storage disease due to glycogen synthase deficiency GARD:0010760 MONDO:0012693 glycogen storage disease due to glycogen synthase deficiency of heart GSD due to muscle and heart glycogen synthase deficiency SCTID:725027004 GSD0B UMLS:C1969054 Orphanet:137625 glycogen storage disease type 0b glycogen storage disease 0, muscle NANDO:2201152 A glycogen storage disease characterized by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase. MESH:C566917 MEDGEN:409741 glycogenosis type 0b glycogen storage disease type 0, muscle glycogenosis due to muscle and heart glycogen synthase deficiency GSD type 0b