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

Keywords: Congenital myopathies, KBTBD13, Core-rod myopathy, Nemaline myopathy, Central core myopathy, LGMD

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Bibliographische Detailangaben
Veröffentlicht in:	Acta neuropathologica communications 2018-09, Vol.6 (1), p.94-94, Article 94
Hauptverfasser:	Garibaldi, Matteo, Fattori, Fabiana, Bortolotti, Carlo Augusto, Brochier, Guy, Labasse, Clemence, Verardo, Margherita, Servian-Morilla, Emilia, Gibellini, Lara, Pinti, Marcello, Di Rocco, Giulia, Raffa, Salvatore, Pennisi, Elena Maria, Bertini, Enrico Silvio, Paradas, Carmen, Romero, Norma Beatriz, Antonini, Giovanni
Format:	Artikel
Sprache:	eng
Schlagworte:	Aged BTB-POZ Domain - genetics Central core myopathy Congenital myopathies Core-rod myopathy Creatine Kinase - metabolism Genetic aspects Genetic disorders Green Fluorescent Proteins - genetics Green Fluorescent Proteins - metabolism Humans KBTBD13 Letter to the Editor LGMD Magnetic Resonance Imaging Male Microscopy, Electron Models, Molecular Muscle Proteins - genetics Muscle Proteins - metabolism Muscle, Skeletal - metabolism Muscle, Skeletal - pathology Muscle, Skeletal - ultrastructure Muscular Dystrophies, Limb-Girdle - diagnostic imaging Muscular Dystrophies, Limb-Girdle - genetics Muscular Dystrophies, Limb-Girdle - pathology Muscular Dystrophies, Limb-Girdle - physiopathology Mutation - genetics NAD - metabolism Nemaline myopathy Proteins Tomography Scanners, X-Ray Computed
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Beschreibung
Zusammenfassung:	Keywords: Congenital myopathies, KBTBD13, Core-rod myopathy, Nemaline myopathy, Central core myopathy, LGMD
ISSN:	2051-5960 2051-5960
DOI:	10.1186/s40478-018-0595-0