Title: Novel loss-of-function mutation of the <i>HINT1</i> gene in a patient with distal motor axonal neuropathy without neuromyotonia
Abstract: Muscle & NerveVolume 52, Issue 4 p. 688-689 Noteworthy Cases Novel loss-of-function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia Francesca Boaretto PhD, Francesca Boaretto PhD Department of Biology, University of Padova, Padova, ItalySearch for more papers by this authorMario Cacciavillani MD, PhD, Mario Cacciavillani MD, PhD CEMES, Data Medica Group, EMG Laboratory, Padova, ItalySearch for more papers by this authorMaria Luisa Mostacciuolo PhD, Maria Luisa Mostacciuolo PhD Department of Biology, University of Padova, Padova, ItalySearch for more papers by this authorAmbra Spalletta PhD, Ambra Spalletta PhD Department of Biology, University of Padova, Padova, ItalySearch for more papers by this authorGiuseppe Piscosquito MD, Giuseppe Piscosquito MD Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences–IRCCS Foundation, “C. Besta” Neurological Institute, Milan, ItalySearch for more papers by this authorDavide Pareyson MD, Davide Pareyson MD Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences–IRCCS Foundation, “C. Besta” Neurological Institute, Milan, ItalySearch for more papers by this authorGiovanni Vazza PhD, Giovanni Vazza PhD Department of Biology, University of Padova, Padova, ItalySearch for more papers by this authorChiara Briani MD, Chiara Briani MD Department of Neurosciences, University of Padova, Padova, ItalySearch for more papers by this author Francesca Boaretto PhD, Francesca Boaretto PhD Department of Biology, University of Padova, Padova, ItalySearch for more papers by this authorMario Cacciavillani MD, PhD, Mario Cacciavillani MD, PhD CEMES, Data Medica Group, EMG Laboratory, Padova, ItalySearch for more papers by this authorMaria Luisa Mostacciuolo PhD, Maria Luisa Mostacciuolo PhD Department of Biology, University of Padova, Padova, ItalySearch for more papers by this authorAmbra Spalletta PhD, Ambra Spalletta PhD Department of Biology, University of Padova, Padova, ItalySearch for more papers by this authorGiuseppe Piscosquito MD, Giuseppe Piscosquito MD Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences–IRCCS Foundation, “C. Besta” Neurological Institute, Milan, ItalySearch for more papers by this authorDavide Pareyson MD, Davide Pareyson MD Clinic of Central and Peripheral Degenerative Neuropathies Unit, Department of Clinical Neurosciences–IRCCS Foundation, “C. Besta” Neurological Institute, Milan, ItalySearch for more papers by this authorGiovanni Vazza PhD, Giovanni Vazza PhD Department of Biology, University of Padova, Padova, ItalySearch for more papers by this authorChiara Briani MD, Chiara Briani MD Department of Neurosciences, University of Padova, Padova, ItalySearch for more papers by this author First published: 08 June 2015 https://doi.org/10.1002/mus.24720Citations: 14Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References 1Zimoń M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y, et al. Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nat Genet 2012; 44: 1080–1083. 2Caetano JS, Costa C, Baets J, Zimon M, Venâncio M, Saraiva J, et al. Autosomal recessive axonal neuropathy with neuromyotonia: a rare entity. Pediatr Neurol 2014; 50: 104–107. 3Laššuthová P, Brožková DS, Krůtová M, Neupauerová J, Haberlová J, Mazanec R, et al. Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom. Neurogenetics 2015; 16: 43–54. 4Zhao H, Race V, Matthijs G, De Jonghe P, Robberecht W, Lambrechts D, et al. Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy. Eur J Hum Genet 2014; 22: 847–850. 5Hahn AF, Parkes AW, Bolton CF, Stewart SA. Neuromyotonia in hereditary motor neuropathy. J Neurol Neurosurg Psychiatry 1991; 54: 230–235. Citing Literature Volume52, Issue4October 2015Pages 688-689 ReferencesRelatedInformation
Publication Year: 2015
Publication Date: 2015-07-27
Language: en
Type: article
Indexed In: ['crossref', 'pubmed']
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Cited By Count: 16
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