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Rapsyn mutations in hereditary myasthenia

Distinct early- and late-onset phenotypes

From the Department of Clinical Neurology (Drs. Burke, Hilton–Jones, and Palace) and Neurosciences Group (Drs. Cossins, Vincent, Newsom–Davis, and Beeson, S. Maxwell and G. Owens), Weatherall Institute of Molecular Medicine, Department of Clinical Neurology, University of Oxford, and Department of Paediatric Neurology (Dr. Robb), Guy’s and St. Thomas’s Hospital, London, UK; and Department of Clinical Neurological Sciences (Dr. Nicolle), University of Western Ontario, London, Ontario, Canada.

Address correspondence and reprint requests to Dr. D. Beeson, Neurosciences Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, OX3 9DS, UK; e-mail: dbeeson{at}hammer.imm.ox.ac.uk

Rapsyn mutations in 16 unrelated patients with a congenital/hereditary myasthenic syndrome were identified, and a mutation (N88K) common to each of them was found. Two distinct phenotypes were noted: early and late onset. The former is frequently associated with arthrogryposis multiplex congenita and life-threatening crises. The late-onset phenotype developed in adolescence or adulthood and was initially mistaken for seronegative myasthenia gravis. Recognition of this late-onset phenotype should prevent inappropriate immunotherapy.

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