Congenital myasthenic syndromes.

Congenital myasthenic syndromes are a rare group of heterogeneous disorders affecting neuromuscular transmission. Recent identification and in-vitro functional analysis of some of the genetic mutations that cause these disorders correlates with previous electrophysiological, biochemical, pathologica...

Ausführliche Beschreibung

Bibliographische Detailangaben
Hauptverfasser: Beeson, D, Palace, J, Vincent, A
Format: Journal article
Sprache:English
Veröffentlicht: 1997
Beschreibung
Zusammenfassung:Congenital myasthenic syndromes are a rare group of heterogeneous disorders affecting neuromuscular transmission. Recent identification and in-vitro functional analysis of some of the genetic mutations that cause these disorders correlates with previous electrophysiological, biochemical, pathological and therapeutic studies, and has advanced our understanding of neuromuscular transmission.