muscle glycogen storage disease

Term ID

DOID:0061272

Synonyms

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/

References

• MIM:611556

Ontology

Human Disease   ( DOID:0061272 )