Novel loss-of-function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia-Reference-Cited by-同舟云学术

Novel loss-of-function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia

Published:2015-07-27 Issue:4 Volume:52 Page:688-689
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Boaretto Francesca¹,Cacciavillani Mario²,Mostacciuolo Maria Luisa¹,Spalletta Ambra¹,Piscosquito Giuseppe³,Pareyson Davide³,Vazza Giovanni¹,Briani Chiara⁴

Affiliation:

1. Department of Biology; University of Padova; Padova Italy

2. CEMES, Data Medica Group, EMG Laboratory; Padova Italy

3. Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences-IRCCS Foundation, “C. Besta” Neurological Institute; Milan Italy

4. Department of Neurosciences; University of Padova; Padova Italy

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Clinical Neurology,Physiology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mus.24720/fullpdf

Reference5 articles.

1. Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia;Zimoń;Nat Genet,2012

2. Autosomal recessive axonal neuropathy with neuromyotonia: a rare entity;Caetano;Pediatr Neurol,2014

3. Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom;Laššuthová;Neurogenetics,2015

4. Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy;Zhao;Eur J Hum Genet,2014

5. Neuromyotonia in hereditary motor neuropathy;Hahn;J Neurol Neurosurg Psychiatry,1991

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1. Case report: A novel homozygous histidine triad nucleotide-binding protein 1 mutation featuring distal hereditary motor-predominant neuropathy with rimmed vacuoles;Frontiers in Neurology;2023-02-06

2. HINT1-Associated Axonal Neuropathy with Neuromyotonia;Neurology India;2023

3. Early onset hereditary neuronopathies: an update on non-5qmotor neuron diseases;Brain;2022-11-29

4. The Combination of Chromosomal Reorganization and Inherited Point Mutation Has Led to the Development of a Rare Clinical Phenotype in a Patient with Disorder of Sex Differentiation and Neuromuscular Pathology;Cytology and Genetics;2022-09-20

5. HINT1 neuropathy: Expanding the genotype and phenotype spectrum;Clinical Genetics;2022-08-16