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.

[1]

Synonyms

Glycogen storage disease 7
glycogen storage disease type VII

Cross References

Parent Terms

Child Terms

None

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glycogen storage disease VII

glycogen storage disease VII

Associated Genes

Associated Alleles

Associated Models