| Term Name: | muscle glycogen storage disease |
|---|---|
| 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. |
| Ontology: | Human Disease [DOID:0061272] ( DOID:0061272 ) |