MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS WITH HOMOZYGOUS MUTATION (C.448DELC, MEMO SER FSX11) ON EXON 6 OF MLC1 GENE

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dc.contributor.authorSoysal, Zeyneb
dc.contributor.authorOkur, Murat
dc.contributor.authorEröz, Recep
dc.contributor.authorGün, Emrah
dc.contributor.authorKocabay, Kenan
dc.contributor.authorBeşir, Fahri Halit
dc.date.accessioned2020-04-30T23:19:10Z
dc.date.available2020-04-30T23:19:10Z
dc.date.issued2015
dc.departmentDÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.descriptionWOS: 000370466000011en_US
dc.descriptionPubMed: 26349194en_US
dc.description.abstractMegalencephalic leukoencephalopathy with subcortical cysts with homozygous mutation (c.448delc, p. leu150 ser fsx11) on exon 6 of MLC1 gene: MLC or Van der Knaap disease is a rare entity, a rare and genetically heterogeneous cerebral white matter disease. It is characterized by the presence of macrocephaly, epilepsy and a slowly progressive spastic cerebellar syndrome. It is an autosomal recessive disease caused from mutations of MLC1 gene. In the current case report, a case with MLC who had a homozygous mutation (c.448delC, p.Leu150 ser fsX11) on exon 6 of MLC1 gene is presented.en_US
dc.identifier.endpage236en_US
dc.identifier.issn1015-8146
dc.identifier.issue2en_US
dc.identifier.startpage233en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12684/3675
dc.identifier.volume26en_US
dc.identifier.wosWOS:000370466000011en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherMedecine Et Hygieneen_US
dc.relation.ispartofGenetic Counselingen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectMacrocephalyen_US
dc.subjectMLC1 geneen_US
dc.subjectNeurodegenerative disorderen_US
dc.subjectSubcortical cystsen_US
dc.subjectVan der Knaap diseaseen_US
dc.titleMEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS WITH HOMOZYGOUS MUTATION (C.448DELC, MEMO SER FSX11) ON EXON 6 OF MLC1 GENEen_US
dc.typeArticleen_US

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