| 单词 | Deficiency,Muscle Phosphofructokinase |
| 释义 | Deficiency,Muscle Phosphofructokinase《英文msh词典》Deficiency,Muscle Phosphofructokinase [入口词] Deficiency,Muscle Phosphofructokinase [主题词] Glycogen Storage Disease Type VII [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. |
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