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
Main Author: J Gordon Millichap (Author)
Format: Book
Published: Pediatric Neurology Briefs Publishers, 2000-09-01T00:00:00Z.
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3rd Floor Main Library

Holdings details from 3rd Floor Main Library
Call Number: A1234.567
Copy 1 Available