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

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 origi...

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Detalles Bibliográficos
Autores principales: Michaelidou, Kleita, Tsiverdis, Ioannis, Erimaki, Sophia, Papadimitriou, Dimitra, Amoiridis, Georgios, Papadimitriou, Alexandros, Mitsias, Panayiotis, Zaganas, Ioannis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196464/
https://www.ncbi.nlm.nih.gov/pubmed/32022442
http://dx.doi.org/10.1002/mgg3.1141

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