HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.

Matilde MalcorpsSilvia Amor-BarrisBirute BurnyteRamune VilimieneCamila Armirola-RicaurteKristina GrigalionieneAlexandra EkshteynAusra MorkunieneArunas VaitkeviciusEls De VriendtJonathan BaetsSteven S SchererLaima AmbrozaityteAlgirdas UtkusAlbena JordanovaKristien Peeters

Published in: Orphanet journal of rare diseases (2022)

Our findings broaden NMAN's genetic epidemiology and have implications for the molecular diagnostics of inherited neuropathies in the Baltic region and beyond. Moreover, we provide mechanistic insights allowing patient stratification for future treatment strategies.

Keyphrases

genome wide
copy number
case report
risk factors
single cell
current status
single molecule
gene expression