A new mutation of the fukutin gene in a non-Japanese patient

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dc.contributor.authorSılan, Fatma
dc.contributor.authorYoshioka, Mieko
dc.contributor.authorKobayashi, Kazuhiro
dc.contributor.authorŞimşek, Enver
dc.contributor.authorTunç, Murat
dc.contributor.authorAlper, Murat
dc.contributor.authorToda, Tatsushi
dc.date.accessioned2020-04-30T22:38:44Z
dc.date.available2020-04-30T22:38:44Z
dc.date.issued2003
dc.departmentDÜ, Tıp Fakültesi, Temel Tıp Bilimleri Bölümüen_US
dc.descriptionKaracabey, Kursat/0000-0002-7647-5024; alper, murat/0000-0001-7069-0623; Kobayashi, Kazuhiro/0000-0001-7801-147Xen_US
dc.descriptionWOS: 000181200400015en_US
dc.descriptionPubMed: 12601708en_US
dc.description.abstractFukuyama-type congenital muscular dystrophy (FCMD) , Walker-Warburg syndrome, and muscle-eye-brain disease are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, cobblestone lissencephaly, and eye anomalies. FCMD is frequent in Japan, but no FCMD patient with confirmed fukutin gene mutations has been identified in a non-Japanese population. Here, we describe a Turkish CMD patient with severe brain and eye anomalies. Sequence analysis of the patient's DNA identified a homozygous 1bp insertion mutation in exon 5 of the fukutin gene. To our knowledge, this is the first case worldwide in which a fukutin mutation has been found outside the Japanese population. This report emphasizes the importance of considering fukutin mutations for diagnostic purposes outside of Japan.en_US
dc.identifier.doi10.1002/ana.10491en_US
dc.identifier.endpage396en_US
dc.identifier.issn0364-5134
dc.identifier.issue3en_US
dc.identifier.startpage392en_US
dc.identifier.urihttps://doi.org/10.1002/ana.10491
dc.identifier.urihttps://hdl.handle.net/20.500.12684/2410
dc.identifier.volume53en_US
dc.identifier.wosWOS:000181200400015en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWiley-Lissen_US
dc.relation.ispartofAnnals Of Neurologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.titleA new mutation of the fukutin gene in a non-Japanese patienten_US
dc.typeArticleen_US

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