The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth disease.

Feride Cinarli YukselPaschalis NicolaouKerri SpontarelliMaike F DohrnAdriana P RebeloPantelitsa KoutsouAnthi GeorghiouPablo ArtigasStephan L ZüchnerKleopas A KleopaChristodoulou Kyproula

Published in: Journal of neurology (2023)

Our results further confirm the causative role of ATP1A1 in peripheral neuropathy and broaden the mutational and phenotypic spectrum of ATP1A1-associated CMT.

Keyphrases

copy number
gene expression
dna methylation