Article
[Congenital myasthenic syndromes: phenotypic expression and pathophysiological characterisation].
Revue neurologique - 1 Feb 2004
Andreux F, Hantaï D, Eymard B
Abstract excerpt
Congenital Myasthenic Syndromes (CMS) are a heterogeneous group of diseases caused by genetic defects affecting neuromuscular transmission. The twenty five past Years saw major advances in identifying different types of CMS due to abnormal presynaptic, synaptic, and postsynaptic proteins. CMS diagnosis requires two steps: 1) positive diagnosis supported by myasthenic signs beginning in neonatal period, efficacy...
Topics
- Acetylcholine
- Acetylcholinesterase
- Cholinesterase Inhibitors
- Diagnostic Techniques, Neurological
- Genetic Heterogeneity
- Genetic Techniques
- Humans
- Intermediate Filament Proteins
- Ion Channel Gating
- Myasthenic Syndromes, Congenital
- NAV1.4 Voltage-Gated Sodium Channel
- Nerve Tissue Proteins
- Neuromuscular Junction
- Phenotype
- Plectin
- Receptors, Cholinergic
- Sodium Channels
- Synaptic Transmission