An 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. These patients have severe congenital muscular dystrophy and are exercise intolerant.
Glycogenosis 7 /
Tarui Disease /
Deficiency, Muscle Phosphofructokinase /
Muscle Phosphofructokinase Deficiency /