Glycogenosis 7

《英文msh詞典》Glycogenosis 7
[同義詞] Glycogenosis 7
[主題詞] Glycogen Storage Disease Type VII
[中文釋義] 糖原病7型
[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.