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