About The Medical Condition Deficiency, Muscle Phosphofructokinase
Find the definition of the medical term Deficiency, Muscle Phosphofructokinase. Deficiency, Muscle Phosphofructokinase defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Deficiency, Muscle Phosphofructokinase
| Deficiency, Muscle Phosphofructokinase Medical Condition |
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What's The Definition Of The Medical Condition Deficiency, Muscle Phosphofructokinase?
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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