The genetic profile of childhood neuromuscular disorders: A single center experience

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dc.authorid0000-0001-6930-7148
dc.contributor.authorTezel, Oğuzhan
dc.contributor.authorÖztürk, Gülten
dc.contributor.authorÜnver, Olcay
dc.contributor.authorPolat, H.
dc.contributor.authorAyaz, Akif
dc.contributor.authorÖzcan, S. Aksoy
dc.contributor.authorTürkdoğan, Dilşad
dc.date.accessioned2023-11-16T11:31:28Z
dc.date.available2023-11-16T11:31:28Z
dc.date.issued2023
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı
dc.description.abstractNeuromuscular Diseases are a heterogeneous group of childhood disorders, and differential diagnosis can be challenging. Although there is no definitive treatment for the most of this group of diseases, early diagnosis is important with the development of new treatment methods. In this study, we aimed to draw attention to the importance of new generation genetic tests in diagnosing neuromuscular diseases. In this retrospective study, we reviewed the records of 800 patients with suspected neuromuscular diseases followed in the Neuromuscular Clinic of Marmara University Pendik Training and Research Hospital between December 2011 and January 2023 according to their demographic, clinical and genetic characteristics. Patients who were diagnosed with Duchenne muscular dystrophy and spinal muscular atrophy with targeted gene testing were excluded from the study. The results of targeted gene testing, clinical exome sequencing (CES), whole exome sequencing (WES) and mitochondrial genome analysis were analysed.
dc.identifier.citationTezel, O., Öztürk, G., Ünver, O., Polat, H., Ayaz, A., Özcan, S. A. ... Türkdoğan, D. (2023). The genetic profile of childhood neuromuscular disorders: A single center experience. Neuromuscular Disorders içinde (S111-S111. ss.). https://dx.doi.org/10.1016/j.nmd.2023.07.183
dc.identifier.doi10.1016/j.nmd.2023.07.183
dc.identifier.endpageS111
dc.identifier.issn0960-8966
dc.identifier.issn1873-2364
dc.identifier.issueSupplement: 1
dc.identifier.startpageS111
dc.identifier.urihttps://dx.doi.org/10.1016/j.nmd.2023.07.183
dc.identifier.urihttps://hdl.handle.net/20.500.12511/11792
dc.identifier.volume33
dc.identifier.wos001087070800172en_US
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.institutionauthorAyaz, Akif
dc.language.isoen
dc.publisherPergamon-Elsevier Science Ltd.
dc.relation.ispartofNeuromuscular Disordersen_US
dc.relation.publicationcategoryKonferans Öğesi - Uluslararası - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectChildhood Neuromuscular Disorders
dc.subjectGenetic Profile
dc.subjectCenter Experience
dc.titleThe genetic profile of childhood neuromuscular disorders: A single center experience
dc.typeConference Object

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