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Oculopharyngodistal myopathy is a distinct entity Clinical and genetic features of 47 patients

dc.contributor.authorKiyan, Esen
dc.contributor.authorSolakoglu, S.
dc.contributor.authorDeymeer, F.
dc.contributor.authorSerdaroglu-Oflazer, P.
dc.contributor.authorParman, Y.
dc.contributor.authorDurmuş, Hacer
dc.contributor.authorLAVAL, S. H.
dc.contributor.authorGOKYIGITI, M.
dc.contributor.authorErtekin, C.
dc.contributor.authorERCAN, I.
dc.contributor.authorKARCAGI, V.
dc.contributor.authorSTRAUB, V.
dc.contributor.authorBUSHBY, K.
dc.contributor.authorLOCHMUELLER, H.
dc.date.accessioned2021-03-05T15:06:18Z
dc.date.available2021-03-05T15:06:18Z
dc.date.issued2011
dc.identifier.citationDurmuş H., LAVAL S. H. , Deymeer F., Parman Y., Kiyan E., GOKYIGITI M., Ertekin C., ERCAN I., Solakoglu S., KARCAGI V., et al., "Oculopharyngodistal myopathy is a distinct entity Clinical and genetic features of 47 patients", NEUROLOGY, cilt.76, sa.3, ss.227-235, 2011
dc.identifier.issn0028-3878
dc.identifier.othervv_1032021
dc.identifier.otherav_ba69769b-eb35-4fa4-9854-b1de1c6efd09
dc.identifier.urihttp://hdl.handle.net/20.500.12627/123986
dc.identifier.urihttps://doi.org/10.1212/wnl.0b013e318207b043
dc.description.abstractBackground: Oculopharyngodistal myopathy (OPDM) has been reported as a rare, adult-onset hereditary muscle disease with putative autosomal dominant and autosomal recessive inheritance. Patients with OPDM present with progressive ocular, pharyngeal, and distal limb muscle involvement. The genetic defect causing OPDM has not been elucidated.
dc.language.isoeng
dc.subjectNeurology (clinical)
dc.subjectLife Sciences
dc.subjectHealth Sciences
dc.subjectDahili Tıp Bilimleri
dc.subjectNöroloji
dc.subjectNeurology
dc.subjectSağlık Bilimleri
dc.subjectTıp
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectKLİNİK NEUROLOJİ
dc.titleOculopharyngodistal myopathy is a distinct entity Clinical and genetic features of 47 patients
dc.typeMakale
dc.relation.journalNEUROLOGY
dc.contributor.departmentİstanbul Teknik Üniversitesi , Elektrik-Elektronik , Elektronik Ve Haberleşme Mühendisliği
dc.identifier.volume76
dc.identifier.issue3
dc.identifier.startpage227
dc.identifier.endpage235
dc.contributor.firstauthorID24537


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