Article
Mutational screening of Greek patients with axonal Charcot-Marie-Tooth disease using targeted next-generation sequencing: Clinical and molecular spectrum delineation.
Journal of the peripheral nervous system : JPNS - 1 Dec 2023
Kontogeorgiou Zoi, Kartanou Chrisoula, Rentzos Michail, Kokotis Panagiotis, Anagnostou Evangelos, Zambelis Thomas, Chroni Elisabeth, Dinopoulos Argyris, Panas Marios, Koutsis Georgios, Karadima Georgia
Abstract excerpt
BACKGROUND AND AIMS: Axonal forms of Charcot-Marie-Tooth disease (CMT) are classified as CMT2, distal hereditary motor neuropathy (dHMN) or hereditary sensory neuropathy (HSN) and can be caused by mutations in over 100 genes. We presently aimed to investigate for the first time the genetic landscape of axonal CMT in the Greek population. METHODS: Sixty index patients with CMT2, dHMN or HSN were screened by a...
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