《英文msh词典》Glycogenosis 7
[同义词] Glycogenosis 7
[主题词] Glycogen Storage Disease Type VII
[中文释义] 糖原病7型
[英文释义] 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.