CONGENITAL MYASTHENIC SYNDROMES

Authors
BEESON D PALACE J VINCENT A
Citation
D. Beeson et al., CONGENITAL MYASTHENIC SYNDROMES, Current opinion in neurology, 10(5), 1997, pp. 402-407
Citations number
30
Categorie Soggetti
Neurosciences,"Clinical Neurology
Journal title
Current opinion in neurology → ACNP
ISSN journal
13507540
Volume
10
Issue
5
Year of publication
1997
Pages
402 - 407
Database
ISI
SICI code
1350-7540(1997)10:5<402:CMS>2.0.ZU;2-E
Abstract
Congenital myasthenic syndromes are a rare group of heterogeneous diso rders affecting neuromuscular transmission. Recent identification and in-vitro functional analysis of some of the genetic mutations that cau se these disorders correlates with previous electrophysiological, bioc hemical, pathological and therapeutic studies, and has advanced our un derstanding of neuromuscular transmission.