Merosin-negative congenital muscular dystrophy: magnetic resonance spectroscopy findings

Basit Öğe Kaydı
dc.authoridYakıncı, Mehmet Cengiz/0000-0001-5930-4269
dc.authoridAslan, Mehmet/0000-0001-5710-6592
dc.authorwosidYakıncı, Mehmet Cengiz/ABI-7519-2020
dc.authorwosidAslan, Mehmet/AEL-7823-2022
dc.contributor.authorAslan, M
dc.contributor.authorAlkan, A
dc.contributor.authorYakinci, C
dc.contributor.authorSonmezgoz, E
dc.contributor.authorBicak, U
dc.contributor.authorZorludemir, S
dc.date.accessioned2024-08-04T20:14:43Z
dc.date.available2024-08-04T20:14:43Z
dc.date.issued2005
dc.departmentİnönü Üniversitesien_US
dc.description.abstractCongenital muscular dystrophies (CMD) are heterogenous group of muscle disorders with autosomal recessive inheritance. Merosin deficiency has been identified in some patients with CMD all of whom also had white matter abnormalities on MRI. In postmortem studies, the brain showed extensive myelin pallor with a spongy appearance of white matter and moderate astrocytosis or demyelination. Direct assessment of neuropathologic aspects of MN-CMD such as demyelination is possible with MR spectroscopy (MRS). Although previous reports have described several neuro-imaging findings of this disease, MRS findings have not been reported in literature. In this case, we report MRS features of a 4-year old girl with MN-CMD. MRS of brain demonstrated that N-acetylaspartate (NAA)/Creatine (Cr) ratio was normal. Increased Choline (Cho)/Cr and Myo-inositol (MI)/Cr ratios were obtained. These findings were interpreted as demyelination and gliosis of white matter. (c) 2004 Elsevier B.V. All rights reserved.en_US
dc.identifier.doi10.1016/j.braindev.2004.08.004
dc.identifier.endpage310en_US
dc.identifier.issn0387-7604
dc.identifier.issue4en_US
dc.identifier.pmid15862197en_US
dc.identifier.scopus2-s2.0-18044394960en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage308en_US
dc.identifier.urihttps://doi.org/10.1016/j.braindev.2004.08.004
dc.identifier.urihttps://hdl.handle.net/11616/93900
dc.identifier.volume27en_US
dc.identifier.wosWOS:000229277100014en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherElsevier Science Bven_US
dc.relation.ispartofBrain & Developmenten_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectmagnetic resonance spectroscopyen_US
dc.subjectcongenital muscular dystrophyen_US
dc.titleMerosin-negative congenital muscular dystrophy: magnetic resonance spectroscopy findingsen_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayın Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu