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Novel Lys215Asn mutation in an Italian family with Thomsen myotonia.

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Title: Novel Lys215Asn mutation in an Italian family with Thomsen myotonia.
Authors: Mantero V; Neurological Unit, 'A. Manzoni' Hospital - ASST Lecco, Via dell'Eremo 9/11, 23900, Lecco, Italy. vittorio.mantero@hotmail.com., Lucchiari S; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Neurology Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy., Balgera R; Neurological Unit, 'A. Manzoni' Hospital - ASST Lecco, Via dell'Eremo 9/11, 23900, Lecco, Italy., Comi GP; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Neurology Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy., Salmaggi A; Neurological Unit, 'A. Manzoni' Hospital - ASST Lecco, Via dell'Eremo 9/11, 23900, Lecco, Italy., Rigamonti A; Neurological Unit, 'A. Manzoni' Hospital - ASST Lecco, Via dell'Eremo 9/11, 23900, Lecco, Italy.
Source: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2018 Aug; Vol. 39 (8), pp. 1491-1492. Date of Electronic Publication: 2018 Mar 15.
Publication Type: Case Reports; Letter
Journal Info: Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Novel Lys215Asn mutation in an Italian family with Thomsen myotonia.
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  Data: <searchLink fieldCode="AU" term="%22Mantero+V%22">Mantero V</searchLink>; Neurological Unit, 'A. Manzoni' Hospital - ASST Lecco, Via dell'Eremo 9/11, 23900, Lecco, Italy. vittorio.mantero@hotmail.com.<br /><searchLink fieldCode="AU" term="%22Lucchiari+S%22">Lucchiari S</searchLink>; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Neurology Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Balgera+R%22">Balgera R</searchLink>; Neurological Unit, 'A. Manzoni' Hospital - ASST Lecco, Via dell'Eremo 9/11, 23900, Lecco, Italy.<br /><searchLink fieldCode="AU" term="%22Comi+GP%22">Comi GP</searchLink>; Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), Neurology Unit, IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Salmaggi+A%22">Salmaggi A</searchLink>; Neurological Unit, 'A. Manzoni' Hospital - ASST Lecco, Via dell'Eremo 9/11, 23900, Lecco, Italy.<br /><searchLink fieldCode="AU" term="%22Rigamonti+A%22">Rigamonti A</searchLink>; Neurological Unit, 'A. Manzoni' Hospital - ASST Lecco, Via dell'Eremo 9/11, 23900, Lecco, Italy.
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  Data: <searchLink fieldCode="JN" term="%22100959175%22">Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology</searchLink> [Neurol Sci] 2018 Aug; Vol. 39 (8), pp. 1491-1492. <i>Date of Electronic Publication: </i>2018 Mar 15.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer-Verlag+Italia%22">Springer-Verlag Italia </searchLink><i>Country of Publication: </i>Italy <i>NLM ID: </i>100959175 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1590-3478 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215901874%22">15901874 </searchLink><i>NLM ISO Abbreviation: </i>Neurol Sci <i>Subsets: </i>MEDLINE
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        Value: 10.1007/s10072-018-3311-8
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      – Code: eng
        Text: English
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      – TitleFull: Novel Lys215Asn mutation in an Italian family with Thomsen myotonia.
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            NameFull: Lucchiari S
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              Text: 2018 Aug
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              Y: 2018
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              Value: 8
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            – TitleFull: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
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