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P288 – 2100 A novel mutation in SCN4A gene in a patient with an unusual clinical presentation of myotonia permanents – expanding the clinical and molecular spectrum of SCN4A mutations

✍ Scribed by Ginzberg, M; Vinkler, C; Leshinsky-Silver, E; Sagie Lerman, T; Lehmann-Horn, F

No coin nor oath required. For personal study only.

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