Article
Whole exome sequencing establishes diagnosis of Charcot-Marie-Tooth 4J, 1C, and X1 subtypes.
Molecular genetics & genomic medicine - 1 Apr 2020
Michaelidou Kleita, Tsiverdis Ioannis, Erimaki Sophia, Papadimitriou Dimitra, Amoiridis Georgios, Papadimitriou Alexandros, Mitsias Panayiotis, Zaganas Ioannis
Abstract excerpt
BACKGROUND: Charcot-Marie-Tooth (CMT) hereditary polyneuropathies pose a diagnostic challenge. Our aim here is to describe CMT patients diagnosed by whole exome sequencing (WES) following years of fruitless testing. METHODS/RESULTS: Three patients with polyneuropathy suspected to be genetic in origin, but not harboring PMP22 gene deletion/duplication, were offered WES. The first patient, a 66-year-old man, had...
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