CHRNE Mutation and Congenital Myasthenia

J Gordon Millichap

doi:10.15844/pedneurbriefs-23-1-8

CHRNE Mutation and Congenital Myasthenia

Pediatric Neurology Briefs

Volume 23 (2009): Issue 1

By: J Gordon Millichap

Open Access

|Jan 2009

Abstract

The CHRNE e1293insG mutation was identified in 14 (60%) of 23 North African families with an early onset form of congenital myasthenic syndrome studied at centers in France, Tunisia, Algeria, and UK.

References

Richard P Gaudon K Haddad H Ammar AB Genin E Bauché S The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa Neurology 2008 Dec 9 71 24 1967 72 10.1212/01.wnl.0000336921.51639.0b 19064877
Open DOI Search in Google Scholar Back to article
Müller JS Herczegfalvi A Vilchez JJ Colomer J Bachinski LL Mihaylova V Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes Brain 2007 Jun 130 Pt 6 1497 506 17439981
Search in Google Scholar Back to article
Millichap JG Dodge PR Diagnosis and treatment of myasthenia gravis in infancy, childhood, and adolescence: a study of 51 patients Neurology 1960 Nov 10 1007 14 13770917
Search in Google Scholar Back to article

Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-23-1-8 | Journal eISSN: 2166-6482

Journal RSS Feed

Language: English

Page range: 7 - 7

Published on: Jan 1, 2009

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Oculobulbar Involvement,

Mild and Stable Course,

Cholinesterase Inhibitors

© 2009 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 23 (2009): Issue 1