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Neurology. 2003 Sep 23;61(6):826-8.

Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.

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  • 1Department of Clinical Neurology, Weatherall Institute of Molecular Medicine, Oxford, 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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