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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Ngā kaituhi matua:	Kleita Michaelidou, Ioannis Tsiverdis, Sophia Erimaki, Dimitra Papadimitriou, Georgios Amoiridis, Alexandros Papadimitriou, Panayiotis Mitsias, Ioannis Zaganas
Hōputu:	Artigo
Reo:	Inglês
I whakaputaina:	Wiley 2020-04-01
Rangatū:	Molecular Genetics & Genomic Medicine
Ngā marau:	Charcot–Marie–Tooth disease genetics inherited polyneuropathy whole exome sequencing
Urunga tuihono:	https://doi.org/10.1002/mgg3.1141
Ngā Tūtohu:	Tāpirihia he Tūtohu Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!

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

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