Human genes for glycogen storage disease VII
Glycogen storage disease VII [DOID:11721]
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.
Synonyms: glycogen storage disease VII, DOID:11721, glycogen storage disease VIIs, Glycogen storage disease 7, Glycogen storage disease, type VII ...
Linkouts: OMIM