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ID	DOID:0061272
PURL	http://purl.obolibrary.org/obo/DOID_0061272 Copy Copied!
Name	muscle glycogen storage disease
Definition	A glycogen storage disease charaterized by childhood-onset condition with exercise intolerance, arrhythmia, cardiomyopathy, and sudden death that has_material_basis_in homozygous mutation in the GYS1 gene which encodes muscle glycogen synthase, on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/40398079/
Xrefs	MIM:611556
Parent Relationships	is_a glycogen storage disease is_a autosomal recessive disease
Subclass Logical Relationships	existence starts during some Childhood onset has material basis in some autosomal recessive inheritance