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

Garibaldi, MatteoFattori, FabianaBortolotti, Carlo AugustoBrochier, GuyLabasse, ClemenceVerardo, MargheritaServian-Morilla, EmiliaGibellini, LaraPinti, MarcelloDi Rocco, GiuliaRaffa, SalvatorePennisi, Elena MariaBertini, Enrico SilvioParadas, CarmenRomero, Norma BeatrizAntonini, Giovanni2023-01-252023-01-252018-09-13http://hdl.handle.net/10668/12938enAttribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/Central core myopathyCongenital myopathiesCore-rod myopathyKBTBD13LGMDNemaline myopathyAgedBTB-POZ DomainCreatine KinaseGreen Fluorescent ProteinsHumansMagnetic Resonance ImagingMaleMicroscopy, ElectronModels, MolecularMuscle ProteinsMuscle, SkeletalMuscular Dystrophies, Limb-GirdleMutationNADTomography Scanners, X-Ray ComputedCore-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD.research article30208948open access10.1186/s40478-018-0595-02051-5960PMC6136213https://doi.org/10.1186/s40478-018-0595-0https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6136213/pdf