Disease,Tarui

《英文msh詞典》Disease,Tarui
[入口詞] Disease,Tarui
[主題詞] Glycogen Storage Disease Type VII
[英文釋義] 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.