Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

被引：0

作者：

Magdalena Zimoń

Jonathan Baets

Leonardo Almeida-Souza

Els De Vriendt

Jelena Nikodinovic

Yesim Parman

Esra Battaloǧlu

Zeliha Matur

Velina Guergueltcheva

Ivailo Tournev

Michaela Auer-Grumbach

Peter De Rijk

Britt-Sabina Petersen

Thomas Müller

Erik Fransen

Philip Van Damme

Wolfgang N Löscher

Nina Barišić

Zoran Mitrovic

Stefano C Previtali

Haluk Topaloǧlu

Günther Bernert

Ana Beleza-Meireles

Slobodanka Todorovic

Dusanka Savic-Pavicevic

Boryana Ishpekova

Silvia Lechner

Kristien Peeters

Tinne Ooms

Angelika F Hahn

Stephan Züchner

Vincent Timmerman

Patrick Van Dijck

Vedrana Milic Rasic

Andreas R Janecke

Peter De Jonghe

Albena Jordanova

机构：

[1] Molecular Neurogenomics Group,Department of Molecular Genetics

[2] VIB,Department of Molecular Genetics

[3] University of Antwerp,Department of Neurology

[4] Neurogenetics Laboratory,Department of Molecular Genetics

[5] Institute Born-Bunge,Department of Neurology

[6] University of Antwerp,Department of Molecular Biology and Genetics

[7] Neurogenetics Group,Department of Neurology

[8] VIB,Department of Cognitive Science and Psychology

[9] University of Antwerp,Department of Internal Medicine, Division of Endocrinology and Metabolism

[10] Antwerp University Hospital,Department of Molecular Genetics

[11] Peripheral Neuropathy Group,Department of Pediatrics II

[12] VIB,Department of Medical Genetics

[13] University of Antwerp,Department of Neurology

[14] Clinic for Neurology and Psychiatry for Children and Youth,Department of Neurology

[15] University of Belgrade,Department of Paediatrics

[16] Istanbul Medical Faculty,Department of Neurology

[17] Istanbul University,Division of Neuroscience

[18] Bogazici University,Department of Neurology

[19] Medical University–Sofia,Department of Paediatric Neurology

[20] New Bulgarian University,Department of Paediatrics

[21] Medical University of Graz,Department of Genetics

[22] Applied Molecular Genomics Unit,Division of Human Genetics

[23] VIB,Department of Clinical Neurological Sciences

[24] University of Antwerp,Department of Molecular Microbiology

[25] Institute of Clinical Molecular Biology,Department of Medical Chemistry and Biochemistry

[26] Christian-Albrechts-University,undefined

[27] Innsbruck Medical University,undefined

[28] University of Antwerp,undefined

[29] StatUA Center for Statistics,undefined

[30] University of Antwerp,undefined

[31] Experimental Neurology,undefined

[32] University of Leuven,undefined

[33] Leuven Institute for Neurodegenerative Disorders (LIND),undefined

[34] University of Leuven,undefined

[35] Vesalius Research Center,undefined

[36] VIB,undefined

[37] University Hospital Leuven,undefined

[38] University of Leuven,undefined

[39] Innsbruck Medical University,undefined

[40] University of Zagreb,undefined

[41] Medical School,undefined

[42] University Hospital Centre Zagreb,undefined

[43] National Center for Neuromuscular Diseases,undefined

[44] University Hospital Center Zagreb,undefined

[45] Institute for Experimental Neurology,undefined

[46] San Raffaele Scientific Institute,undefined

[47] San Raffaele Scientific Institute,undefined

[48] Faculty of Medicine,undefined

[49] Hacettepe University,undefined

[50] Gottfried von Preyer'sches Kinderspital,undefined

来源：

Nature Genetics | 2012年 / 44卷

关键词：

D O I：

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中图分类号：

学科分类号：

摘要：

Albena Jordanova and colleagues report mutations in HINT1 in autosomal recessive axonal neuropathy with neuromyotonia. Using linkage analysis and whole-genome sequencing, they identify 8 mutations in 33 affected families.

引用

页码：1080 / 1083

页数：3

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