Glycogen storage disease type 7

(GSD7)

Synonym(s)
- Tarui disease,
- Muscle phosphofructokinase deficiency
Type

Disease
External link(s)
Gene
- PFKM / Phosphofructokinase, muscle
  12q13.11
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Phosphofructokinase, muscle
Pathway
- Glycogen metabolism
Disease group(s)
- 3.4.3 Muscle glycogenoses