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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| Format: | Book |
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Pediatric Neurology Briefs Publishers,
2000-09-01T00:00:00Z.
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