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Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD.

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dc.contributor.authorGaribaldi, Matteo
dc.contributor.authorFattori, Fabiana
dc.contributor.authorBortolotti, Carlo Augusto
dc.contributor.authorBrochier, Guy
dc.contributor.authorLabasse, Clemence
dc.contributor.authorVerardo, Margherita
dc.contributor.authorServian-Morilla, Emilia
dc.contributor.authorGibellini, Lara
dc.contributor.authorPinti, Marcello
dc.contributor.authorDi Rocco, Giulia
dc.contributor.authorRaffa, Salvatore
dc.contributor.authorPennisi, Elena Maria
dc.contributor.authorBertini, Enrico Silvio
dc.contributor.authorParadas, Carmen
dc.contributor.authorRomero, Norma Beatriz
dc.contributor.authorAntonini, Giovanni
dc.date.accessioned2023-01-25T10:22:06Z
dc.date.available2023-01-25T10:22:06Z
dc.date.issued2018-09-13
dc.identifier.doi10.1186/s40478-018-0595-0
dc.identifier.essn2051-5960
dc.identifier.pmcPMC6136213
dc.identifier.pmid30208948
dc.identifier.pubmedURLhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6136213/pdf
dc.identifier.unpaywallURLhttps://doi.org/10.1186/s40478-018-0595-0
dc.identifier.urihttp://hdl.handle.net/10668/12938
dc.issue.number1
dc.journal.titleActa neuropathologica communications
dc.journal.titleabbreviationActa Neuropathol Commun
dc.language.isoen
dc.organizationInstituto de Biomedicina de Sevilla-IBIS
dc.organizationHospital Universitario Virgen del Rocío
dc.page.number94
dc.pubmedtypeCase Reports
dc.pubmedtypeLetter
dc.rightsAttribution 4.0 International
dc.rights.accessRightsopen access
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectCentral core myopathy
dc.subjectCongenital myopathies
dc.subjectCore-rod myopathy
dc.subjectKBTBD13
dc.subjectLGMD
dc.subjectNemaline myopathy
dc.subject.meshAged
dc.subject.meshBTB-POZ Domain
dc.subject.meshCreatine Kinase
dc.subject.meshGreen Fluorescent Proteins
dc.subject.meshHumans
dc.subject.meshMagnetic Resonance Imaging
dc.subject.meshMale
dc.subject.meshMicroscopy, Electron
dc.subject.meshModels, Molecular
dc.subject.meshMuscle Proteins
dc.subject.meshMuscle, Skeletal
dc.subject.meshMuscular Dystrophies, Limb-Girdle
dc.subject.meshMutation
dc.subject.meshNAD
dc.subject.meshTomography Scanners, X-Ray Computed
dc.titleCore-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD.
dc.typeresearch article
dc.type.hasVersionVoR
dc.volume.number6
dspace.entity.typePublication

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