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Title: Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
Authors: Zimoń, Magdalena ×
Baets, Jonathan
Almeida-Souza, Leonardo
De Vriendt, Els
Nikodinovic, Jelena
Parman, Yesim
Battalo Gcaron Lu, Esra
Matur, Zeliha
Guergueltcheva, Velina
Tournev, Ivailo
Auer-Grumbach, Michaela
De Rijk, Peter
Petersen, Britt-Sabina
Müller, Thomas
Fransen, Erik
Van Damme, Philip
Löscher, Wolfgang N
Barišić, Nina
Mitrovic, Zoran
Previtali, Stefano C
Topalo Gcaron Lu, Haluk
Bernert, Günther
Beleza-Meireles, Ana
Todorovic, Slobodanka
Savic-Pavicevic, Dusanka
Ishpekova, Boryana
Lechner, Silvia
Peeters, Kristien
Ooms, Tinne
Hahn, Angelika F
Züchner, Stephan
Timmerman, Vincent
Van Dijck, Patrick
Rasic, Vedrana Milic
Janecke, Andreas R
De Jonghe, Peter
Jordanova, Albena #
Issue Date: Oct-2012
Publisher: Nature Publishing Group
Series Title: Nature genetics vol:44 issue:10 pages:1080-1083
Article number: 10.1038/ng.2406
Abstract: Inherited peripheral neuropathies are frequent neuromuscular disorders known for their clinical and genetic heterogeneity. In 33 families, we identified 8 mutations in HINT1 (encoding histidine triad nucleotide-binding protein 1) by combining linkage analyses with next-generation sequencing and subsequent cohort screening of affected individuals. Our study provides evidence that loss of functional HINT1 protein results in a distinct phenotype of autosomal recessive axonal neuropathy with neuromyotonia.
URI: 
ISSN: 1061-4036
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory for Neurobiology (Vesalius Research Center)
× corresponding author
# (joint) last author

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