Ontology highlight
ABSTRACT:
SUBMITTER: Michaelidou K
PROVIDER: S-EPMC7196464 | biostudies-literature | 2020 Apr
REPOSITORIES: biostudies-literature
Michaelidou Kleita K Tsiverdis Ioannis I Erimaki Sophia S Papadimitriou Dimitra D Amoiridis Georgios G Papadimitriou Alexandros A Mitsias Panayiotis P Zaganas Ioannis I
Molecular genetics & genomic medicine 20200205 4
<h4>Background</h4>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.<h4>Methods/results</h4>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 been suffering from progressive weakness and atrophies in the lower and u ...[more]