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