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 )

Relationships
is a type of: autosomal recessive disease glycogen storage disease