En autosomal, recessiv glykogenos som kännetecknas av brist på 6-fosfofruktos-1-kinas i musklerna, vilket leder till onormal upplagring av glykogen i muskelvävnaden. Patienter med denna sjukdom lider av svår, medfödd muskeldystrofi och tål inte fysisk aktivitet.
An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.
Glykogenos 7 — Glykogenos typ VII — Taruis sjukdom — Fosfofruktokinasbrist
Deficiency, Muscle Phosphofructokinase — Deficiencies, Muscle Phosphofructokinase — Muscle Phosphofructokinase Deficiencies — Phosphofructokinase Deficiencies, Muscle — Phosphofructokinase Deficiency, Muscle — Muscle Phosphofructokinase Deficiency — Glycogen Storage Disease VII — Tarui Disease — Disease, Tarui — Pfkm Deficiency — Deficiencies, Pfkm — Deficiency, Pfkm — Pfkm Deficiencies — GSD VII — Glycogenosis 7 — Tarui's Disease — Disease, Tarui's — Taruis Disease