Published 2000
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Congenital Myasthenic Syndrome and AChR Mutation
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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.Files
PNB-14-70-a.pdf
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- PNB-14-70-a
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2000When the item was originally created.