The congenital myasthenic syndromes.
J Neuroimmunol
; 201-202: 2-5, 2008 Sep 15.
Article
in En
| MEDLINE
| ID: mdl-18708269
ABSTRACT
The congenital myasthenic syndromes (CMS) are rare inherited disorders of neuromuscular transmission characterised by fatigable muscle weakness. Thus far, genetic analysis has identified mutations in eleven different genes but it is clear that additional phenotypic subgroups exist where the underlying genetics has not yet been defined. Although each syndrome results from defective synaptic transmission at the neuromuscular junction, the patients show a variable set of phenotypes. Here, we provide a brief clinical review.
Full text:
1
Database:
MEDLINE
Main subject:
Myasthenic Syndromes, Congenital
Type of study:
Prognostic_studies
Limits:
Humans
Language:
En
Journal:
J Neuroimmunol
Year:
2008
Type:
Article
Affiliation country:
United kingdom