Expanding the Clinical Spectrum of DRP2 -Associated Charcot-Marie-Tooth Disease.

Rafael SiveraAna L Pelayo-NegroIvonne Jericó Cristina Domínguez-González Alejandro HorgaFrancisco J Rodriguez De RiveraElena GallardoJose Ignacio TemblLaura Bermejo-GuerreroMaria Inmaculada Pagola LorzInmaculada AzorínMarta CordobaMaría Del Mar Fenollar-CortésElvira MilletJuan Jesus Vilchez Carmen EspinósMaría Apellániz-RuizTeresa Sevilla

Published in: Neurology (2024)

pathogenic germline variants in CMT and further define the phenotype as a late-onset sensory and motor length-dependent neuropathy, with intermediate velocities and thickening of proximal nerve segments.

Keyphrases

late onset
early onset
copy number
dna repair
peripheral nerve
gene expression
genome wide