Childhood onset limb-girdle muscular dystrophies in the aegean part of Turkey

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dc.contributor.authorYiş U.
dc.contributor.authorDiniz G.
dc.contributor.authorHazan F.
dc.contributor.authorDaimagüler H.S.
dc.contributor.authorBaysal B.T.
dc.contributor.authorBaydan F.
dc.contributor.authorAkinci G.
dc.contributor.authorÜnalp A.
dc.contributor.authorAktan G.
dc.contributor.authorBayram E.
dc.contributor.authorHiz S.
dc.contributor.authorPaketçi C.
dc.contributor.authorOkur D.
dc.contributor.authorÖzer E.
dc.contributor.authorDanyeli A.E.
dc.contributor.authorPolat M.
dc.contributor.authorUyanik G.
dc.contributor.authorÇirak S.
dc.date.accessioned2019-10-26T21:15:57Z
dc.date.available2019-10-26T21:15:57Z
dc.date.issued2018
dc.departmentEge Üniversitesien_US
dc.description.abstractThe aim of this study is to analyze the epidemiology of the clinical and genetic features of childhood-onset limb-girdle muscular dystrophies (LGMD) in the Aegean part of Turkey. In total fifty-six pediatric cases with LGMD followed in four different pediatric neurology departments in the Aegean region of Turkey were evaluated. Among them, LGMD2C was the most common followed by LGMD2A, LGMD2D, and LGMD2F with equal frequencies. In twenty-eight patients (50%) the diagnosis could be confirmed by genetic analysis, where SGCG proved to be disease-causing in most of the cases. About half of the patients were diagnosed with whole exome or targeted gene sequencing. A positive correlation between muscle biopsy and genetic findings were observed in 11% of the patients. We report one novel frameshifting mutation in TTN. Knowledge on frequencies of childhood-onset limb-girdle muscular dystrophies and related genes in Turkey will lead to a prompt diagnosis of these neuromuscular disorders. © 2018 Pacini Editore S.p.A. All rights reserved.en_US
dc.description.sponsorshipCI 218/1-1 Muscular Dystrophy Associationen_US
dc.description.sponsorshipSC received funding from Muscular Dystrophy Association (Developmental Grant) and the Deutsche Forschun-gsgemeinschaft Emmy Noether Grant (CI 218/1-1). --en_US
dc.identifier.endpage220en_US
dc.identifier.issn1128-2460
dc.identifier.issue3en_US
dc.identifier.pmid30838351en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage210en_US
dc.identifier.urihttps://hdl.handle.net/11454/16124
dc.identifier.volume37en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherPacini Editore S.p.A.en_US
dc.relation.ispartofActa Myologicaen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectChildhooden_US
dc.subjectGenetic diagnosisen_US
dc.subjectLimb-girdle muscular dystrophyen_US
dc.subjectTurkeyen_US
dc.titleChildhood onset limb-girdle muscular dystrophies in the aegean part of Turkeyen_US
dc.typeArticleen_US

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