About The Medical Condition Congenital Myasthenic Syndromes
Find the definition of the medical term Congenital Myasthenic Syndromes. Congenital Myasthenic Syndromes defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Congenital Myasthenic Syndromes
| Congenital Myasthenic Syndromes Medical Condition |
|---|
What's The Definition Of The Medical Condition Congenital Myasthenic Syndromes?
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
- Radioactive Air Pollutants ‐ Pollutants, present in air, which exhibit…
- Exenterations, Pelvic ‐ Removal of all of the organs and adjacent structures of the pelvis.…
- Receptors, LDL ‐ Receptors on the plasma membrane of nonhepatic cells that specifically…
- Pro-Leu-Gly-NH2 ‐ A hypothalamic tripeptide, enzymatic degradation product of oxytocin,…
- Ovarian Neoplasm ‐ Tumors or cancer of…
- Osteochondroma ‐ A cartilage-capped benign tumor that often appears as a stalk…
- Maleate, Vecuronium ‐ Monoquaternary homolog of PANCURONIUM. A non-depolarizing neuromuscular…
- PRINS ‐ A technique that labels specific sequences in whole chromosomes…
- Mutations, Missense ‐ A mutation in which a codon is mutated to one directing the incorporation…
- Inert Gas Narcoses ‐ Progressive mental disturbances and unconsciousness due to breathing…