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

Malcorps, M; Amor-Barris, S; Burnyte, B; Vilimiene, R; Armirola-Ricaurte, C; Grigalioniene, K; Ekshteyn, A; Morkuniene, A; Vaitkevicius, A; De Vriendt, E; Baets, J; Scherer, SS; Ambrozaityte, L; Utkus, A; Jordanova, A; Peeters, K

Jordanova, A (通讯作者)，VIB, VIB Ctr Mol Neurol, Mol Neurogen Grp, Antwerp, Belgium.;Jordanova, A (通讯作者)，Univ Antwerp, Dept Biomed Sci, Mol Neurogen Grp, Antwerp, Belgium.;Jordanova, A (通讯作者)，Med Univ Sofia, Dept Med Chem & Biochem, Sofia, Bulgaria.

ORPHANET JOURNAL OF RARE DISEASES, 2022; 17 (1):

Abstract

Background Recessive loss-of-function variations in HINT1 cause a peculiar subtype of Charcot-Marie-Tooth disease: neuromyotonia and axonal neuropathy......

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