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