Dropped head related lamin A/C associated congenital muscular dystrophy case; previously defined as emery-dreifuss muscular dystrophy

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dc.contributor.authorTekin, Hande Gazeteci
dc.contributor.authorYılmaz, Sabire Sanem
dc.contributor.authorTekgül, Hasan
dc.contributor.authorGökben, Sarenur
dc.contributor.authorAktan, Gül
dc.date.accessioned2022-02-15T16:58:39Z
dc.date.available2022-02-15T16:58:39Z
dc.date.issued2020
dc.departmentBakırçay Üniversitesien_US
dc.description.abstractDropped head syndrome can be seen in many neuromuscular diseases. However, there are very few diseases in which neck extensors are weak among neuromuscular diseases. A 7 years old boy who had weakness of the neck extensor muscles, creatinine kinase elevation and dystrophy findings in biopsy followed up with the preliminary diagnosis of muscular dystrophy is presented. We detected p.N456K (c.1368C> A) heterozygote mutation by the gene sequencing in the Lamin A/C assocıated (LMNA) gene. This mutation was previously reported as Emery-Dreifuss muscular dystrophy.en_US
dc.identifier.doi10.24953/turkjped.2020.01.019
dc.identifier.endpage135en_US
dc.identifier.issn0041-4301
dc.identifier.issue1en_US
dc.identifier.startpage130en_US
dc.identifier.trdizinidTkRJME1qZ3lNZz09en_US
dc.identifier.urihttps://doi.org/10.24953/turkjped.2020.01.019
dc.identifier.urihttps://app.trdizin.gov.tr/makale/TkRJME1qZ3lNZz09
dc.identifier.urihttps://hdl.handle.net/20.500.14034/445
dc.identifier.volume62en_US
dc.indekslendigikaynakTR-Dizinen_US
dc.language.isoenen_US
dc.relation.journalTurkish Journal of Pediatricsen_US
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleDropped head related lamin A/C associated congenital muscular dystrophy case; previously defined as emery-dreifuss muscular dystrophyen_US
dc.typeArticleen_US

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