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. |
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| 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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| ISSN: | 1590-3478 |
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| DOI: | 10.1007/s10072-018-3311-8 |