학술논문
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
Document Type
Article
Author
Zimo?, Magdalena; Baets, Jonathan; Almeida-Souza, Leonardo; De Vriendt, Els; Nikodinovic, Jelena; Parman, Yesim; gcaron, 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; Bariši?, Nina; Mitrovic, Zoran; Previtali, Stefano C
Source
Subject
*GENETIC mutation
*NEUROPATHY
*AXONS
*PERIPHERAL neuropathy
*NEUROMUSCULAR diseases
*DNA-binding proteins
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Language
ISSN
1061-4036
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. [ABSTRACT FROM AUTHOR]