Congenital Myasthenic Syndrome and AChR Mutation
DOI:
https://doi.org/10.15844/pedneurbriefs-14-9-10Keywords:
Congenital Myasthenic Syndrome, E-AChR Subunit Mutations, OphthalmoplegiaAbstract
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.Published
2000-09-01
Issue
Section
Muscle Disorders
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