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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.

Type

Journal article

Journal

Neurology

Publication Date

23/09/2003

Volume

61

Pages

826 - 828

Keywords

Adolescent, Adult, Age of Onset, Amino Acid Substitution, Arthrogryposis, Asia, Child, Child, Preschool, Codon, Consanguinity, DNA Mutational Analysis, Europe, Female, Genotype, Humans, Male, Muscle Proteins, Mutation, Missense, Myasthenia Gravis, Myasthenic Syndromes, Congenital, Phenotype, Point Mutation