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

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

Abstract 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 i...

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Bibliographic Details
Main Authors: Kleita Michaelidou, Ioannis Tsiverdis, Sophia Erimaki, Dimitra Papadimitriou, Georgios Amoiridis, Alexandros Papadimitriou, Panayiotis Mitsias, Ioannis Zaganas
Format: Article
Language:English
Published: Wiley 2020-04-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Charcot–Marie–Tooth disease
genetics
inherited polyneuropathy
whole exome sequencing
Online Access:https://doi.org/10.1002/mgg3.1141

Internet

https://doi.org/10.1002/mgg3.1141

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