About The Medical Condition Congenital Myasthenic Syndrome
Find the definition of the medical term Congenital Myasthenic Syndrome. Congenital Myasthenic Syndrome defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Congenital Myasthenic Syndrome
| Congenital Myasthenic Syndrome Medical Condition |
|---|
What's The Definition Of The Medical Condition Congenital Myasthenic Syndrome?
A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)
|
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
- Vitamin D-Resistant Rickets ‐ Familial disorder characterized by hypophosphatemia associated…
- Skin Diseases, Parasitic ‐ Skin diseases caused by arthropods, helminths, or…
- Outtakes (PT) ‐ Untitled raw motion picture and video footage which has not been…
- Oxidative Phosphorylations ‐ Electron transfer through the cytochrome system liberating free…
- Iodotyrosine ‐ A product from the iodination of tyrosine. In the biosynthesis…
- Beta-1 Subunit, Integrin ‐ Integrin beta-1 chains which are expresssed as heterodimers noncovalently…
- Cell Lineages ‐ The developmental history of cells as traced from the first division…
- Leukemias, Acute Myelocytic ‐ Progressive, malignant disease of the myeloid tissue in which…
- Antiaggregants, Platelet ‐ Drugs or agents which antagonize or impair any mechanism leading…
- Rev-Responsive Elements, HIV ‐ DNA sequences that form the coding region for the viral envelope…