Whole exome sequencing establishes diagnosis of Charcot –Marie–Tooth 4J, 1C, and X1 subtypes

ConclusionNovel diagnostic techniques, such as WES, offer the possibility to decipher the cause of CMT subtypes, ending the diagnostic Odyssey of the patients and sparing them from unnecessary and potentially harmful treatments.

Source: Molecular Genetics & Genomic Medicine - February 5, 2020 Category: Genetics & Stem Cells Authors: Kleita Michaelidou, Ioannis Tsiverdis, Sophia Erimaki, Dimitra Papadimitriou, Georgios Amoiridis, Alexandros Papadimitriou, Panayiotis Mitsias, Ioannis Zaganas Tags: ORIGINAL ARTICLE Source Type: research