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