Rapsyn mutations in hereditary myasthenia
Georgina Burke(Neurosciences Institute), Judith Cossins(Neurosciences Institute), Susan Maxwell(Neurosciences Institute), Gregory L. Owens(Neurosciences Institute), Angela Vincent(Neurosciences Institute), S. Robb(Neurosciences Institute), Michael Nicolle(Neurosciences Institute), David Hilton‐Jones(Neurosciences Institute), John Newsom–Davis(Neurosciences Institute), Jackie Palace(Neurosciences Institute), David Beeson(Neurosciences Institute)
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Abstract
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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