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 |
|---|
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.
|
More Medical Conditions
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
Medical Conditions Definitions Of The Day
- Antigens, HLA-BR ‐ A group of D-related human leukocyte antigens that are polymorphic…
- Gene Expression Microarray Analysis ‐ Hybridization of a nucleic acid sample to a very large set of…
- Organization, Nongovernmental ‐ Administration and functional structures for the purpose of collectively…
- Pieces, Protective Mouth ‐ Devices or pieces of equipment placed in or around the mouth…
- Sphincterotomies, Transduodenal ‐ Surgery of the smooth muscle sphincter of the hepatopancreatic…
- Diabetic Neuropathy ‐ Peripheral, autonomic, and cranial nerve disorders that are associated…
- Cystitis, Chronic Interstitial ‐ A condition of the bladder occurring predominantly in women,…
- Occupational Noises ‐ Noise present in occupational, industrial, and factory…
- Arnold-Chiari Malformation, Type I ‐ A group of congenital malformations involving the brainstem,…
- Electromagnetic Radiation, Non-Ionizing ‐ Electromagnetic radiation which does not produce ions in matter…