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المؤلفون: Rita, Machado, Jorge, Pinto-Basto, Luís, Negrão
المصدر: Acta Myologica
مصطلحات موضوعية: Male, Portugal, Mutation, Missense, Peripheral Nervous System Diseases, Original Articles, Middle Aged, Pedigree, Phenotype, CMT type 2E, Charcot-Marie-Tooth Disease, Neurofilament Proteins, Neurofilament light gene mutation, Humans, Female, NEFL gene, NEFL Tyr265Cys mutation, Aged