Prev Term: glycogen storage disease type VI
Next Term: glycogen storage disease type VIII
glycogen storage disease type VII
Used for:
glycogenosis type VII
Used for:
muscle phosphofructokinase deficiency
Used for:
phosphofructokinase myopathy
Used for:
Tarui disease
Broader Terms:
glycogen storage disease
Scope Note:
autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle resulting in abnormal deposition of glycogen in muscle tissue; patients have severe congenital muscular dystrophy and are exercise intolerant.
Term Number:
1849-4121
Send your comments to: Melody Lowe