Term Name: glycogen storage disease VII
Synonyms: Glycogen storage disease 7, glycogen storage disease type VII, Glycogen storage disease, type VII, Muscle phosphofructokinase deficiency, phosphofructokinase myopathy
Definition: A glycogen storage disease that is characterized by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis and that has_material_basis_in homozygous or compound heterozygous mutation in the PFKM gene, which encodes muscle phosphofructokinase, on chromosome 12q13.
Ontology: Human Disease [DOID:11721]   ( DOID:11721 )

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