Literature DB >> 9330886

Congenital myasthenic syndromes.

D Beeson1, J Palace, A Vincent.   

Abstract

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.

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Year:  1997        PMID： 9330886     DOI： 10.1097/00019052-199710000-00008

Source DB:  PubMed          Journal:  Curr Opin Neurol        ISSN： 1350-7540            Impact factor:   5.710


  3 in total

Review 1.  Ion channels and neurology.

Authors:  S M Zuberi; M G Hanna
Journal:  Arch Dis Child       Date:  2001-03       Impact factor: 3.791

2.  Juvenile myasthenia gravis: a paediatric perspective.

Authors:  Maria F Finnis; Sandeep Jayawant
Journal:  Autoimmune Dis       Date:  2011-11-01

3.  AChR deficiency due to epsilon-subunit mutations: two common mutations in the Netherlands.

Authors:  Catharina G Faber; Peter C Molenaar; Johannes S H Vles; Domenic M Bonifati; Jan J G M Verschuuren; Pieter A van Doorn; Jan B M Kuks; John H J Wokke; David Beeson; Marc De Baets
Journal:  J Neurol       Date:  2009-06-21       Impact factor: 4.849
  3 in total

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