Term Name: | glycogen storage disease VII |
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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 ) |