Publication: Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD.
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Date
2018-09-13
Authors
Garibaldi, Matteo
Fattori, Fabiana
Bortolotti, Carlo Augusto
Brochier, Guy
Labasse, Clemence
Verardo, Margherita
Servian-Morilla, Emilia
Gibellini, Lara
Pinti, Marcello
Di Rocco, Giulia
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Abstract
Description
MeSH Terms
Aged
BTB-POZ Domain
Creatine Kinase
Green Fluorescent Proteins
Humans
Magnetic Resonance Imaging
Male
Microscopy, Electron
Models, Molecular
Muscle Proteins
Muscle, Skeletal
Muscular Dystrophies, Limb-Girdle
Mutation
NAD
Tomography Scanners, X-Ray Computed
BTB-POZ Domain
Creatine Kinase
Green Fluorescent Proteins
Humans
Magnetic Resonance Imaging
Male
Microscopy, Electron
Models, Molecular
Muscle Proteins
Muscle, Skeletal
Muscular Dystrophies, Limb-Girdle
Mutation
NAD
Tomography Scanners, X-Ray Computed
DeCS Terms
CIE Terms
Keywords
Central core myopathy, Congenital myopathies, Core-rod myopathy, KBTBD13, LGMD, Nemaline myopathy