Congenital Myasthenic Syndrome and AChR Mutation

A 20-year-old woman from a consanguineous Moroccan marriage, with progressive muscle weakness noted from 2 years of age and evaluated at the University of Bonn, Germany, was found to have congenital myasthenic syndrome (CMS) due to homozygosity of the 1293insG e-acetylcholine receptor subunit mutati...

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Bibliographic Details

Published in:	Pediatric Neurology Briefs
Main Author:	J Gordon Millichap
Format:	Article
Language:	English
Published:	Pediatric Neurology Briefs Publishers 2000-09-01
Subjects:	congenital myasthenic syndrome e-achr subunit mutations ophthalmoplegia
Online Access:	https://www.pediatricneurologybriefs.com/articles/1910