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1Reference Center for Neuromuscular Disorders and ALS, Timone University Hospital, Aix-Marseille University, ERN-NMD, 264 rue Saint Pierre, Marseille, Cedex 05 13385, France; FILNEMUS, European Reference Network of Rare Diseases (ERN), France; Aix Marseille Université - Inserm UMR 1251, Medical Genetics and Functional Genomics, Marseille, France.
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