Combination of myotonic dystrophy and hereditary motor and sensory neuropathy

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dc.authoridKablan, Yüksel/0000-0002-5581-2968;
dc.authorwosidKablan, Yüksel/AAB-5049-2021
dc.authorwosidBattaloğlu, Esra/AAF-1559-2020
dc.contributor.authorKurt, Semiha
dc.contributor.authorKaraer, Hatice
dc.contributor.authorKaplan, Yuksel
dc.contributor.authorAkat, Irern
dc.contributor.authorBattaloglu, Esra
dc.contributor.authorEruslu, Didern
dc.contributor.authorBasak, A. Nazli
dc.date.accessioned2024-08-04T20:32:13Z
dc.date.available2024-08-04T20:32:13Z
dc.date.issued2010
dc.departmentİnönü Üniversitesien_US
dc.description.abstractMyotonic Dystrophy Type 1 (DM1) in combination with demyelinating neuropathy is very rare in literature. In this Study, DM1 and demyelinating neuropathy were demonstrated clinically and electromyographically in a 43-year-old female patient from Turkey. In the patient an expanded CTG repeat in the Myotonic Dystrophy Protein Kinase (DMPK) gene was confirmed in combination with a duplication in the Charcot-Marie-Tooth Disease (CMT1A) gene. DM1 was also determined in her 25-year-old son. (C) 2009 Elsevier B.V. All rights reserved.en_US
dc.description.sponsorshipBogazici University Research Funds [08HB101D, 00M102]; Suna and Inan Kirac Foundationen_US
dc.description.sponsorshipThis study is supported by Bogazici University Research Funds (08HB101D and 00M102) and the Suna and Inan Kirac Foundation.en_US
dc.identifier.doi10.1016/j.jns.2009.09.028
dc.identifier.endpage199en_US
dc.identifier.issn0022-510X
dc.identifier.issn1878-5883
dc.identifier.issue1-2en_US
dc.identifier.pmid19846120en_US
dc.identifier.scopus2-s2.0-71049133503en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage197en_US
dc.identifier.urihttps://doi.org/10.1016/j.jns.2009.09.028
dc.identifier.urihttps://hdl.handle.net/11616/94921
dc.identifier.volume288en_US
dc.identifier.wosWOS:000274042500035en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherElsevieren_US
dc.relation.ispartofJournal of The Neurological Sciencesen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectMyotonic dystrophyen_US
dc.subjectHereditary motor and sensory neuropathyen_US
dc.subjectCharcot-Marie-Tooth diseaseen_US
dc.titleCombination of myotonic dystrophy and hereditary motor and sensory neuropathyen_US
dc.typeArticleen_US

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