Congenital Myasthenic Syndrome and AChR Mutation
Abstract
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 mutation.
DOI: https://doi.org/10.15844/pedneurbriefs-14-9-10 | Journal eISSN: 2166-6482
Language: English
Page range: 70 - 70
Published on: Sep 1, 2000
Published by: Pediatric Neurology Briefs Publishers
In partnership with: Paradigm Publishing Services
© 2000 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.