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)

Also Known As:

Myasthenia Gravis, Congenital; Myasthenic Syndromes, Congenital; Congenital Myasthenia; Congenital Myasthenia Gravis; Congenital Myasthenic Syndrome; Congenital Myasthenic Syndromes, Postsynaptic; Congenital Myasthenic Syndromes, Presynaptic; Congenital Slow-Channel Myasthenic Syndromes; Myasthenic Syndrome, Congenital, Slow-Channel; Postsynaptic Congenital Myasthenic Syndromes; Presynaptic Congenital Myasthenic Syndromes; Slow-Channel Congenital Myasthenic Syndromes; Congenital Myasthenias; Congenital Slow Channel Myasthenic Syndrome; Congenital Slow Channel Myasthenic Syndromes; Gravi, Congenital Myasthenia; Myasthenia, Congenital; Myasthenias, Congenital; Myasthenic Syndrome, Congenital; Slow Channel Congenital Myasthenic Syndrome; Slow Channel Congenital Myasthenic Syndromes; Syndrome, Congenital Myasthenic; Syndromes, Congenital Myasthenic; Congenital Slow-Channel Myasthenic Syndrome; Myasthenic Syndromes, Congenital, Slow Channel; Postsynaptic Congenital Myasthenic Syndrome; Presynaptic Congenital Myasthenic Syndrome; Slow-Channel Congenital Myasthenic Syndrome

Nervous System Diseases: 14737
- Neuromuscular Diseases: 2048
  - Neuromuscular Junction Diseases: 85
    - Congenital Myasthenic Syndromes: 475
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Congenital Myasthenic Syndromes: 475

Elisa Bergamin Selected Research

Elisa Bergamin Research Topics

Disease

Drug/Important Bio-Agent (IBA)