TY  - JOUR
AU  - Garibaldi, Matteo
AU  - Fattori, Fabiana
AU  - Bortolotti, Carlo Augusto
AU  - Brochier, Guy
AU  - Labasse, Clemence
AU  - Verardo, Margherita
AU  - Servian-Morilla, Emilia
AU  - Gibellini, Lara
AU  - Pinti, Marcello
AU  - Di Rocco, Giulia
AU  - Raffa, Salvatore
AU  - Pennisi, Elena Maria
AU  - Bertini, Enrico Silvio
AU  - Paradas, Carmen
AU  - Romero, Norma Beatriz
AU  - Antonini, Giovanni
PY  - 2018
DO  - 10.1186/s40478-018-0595-0
UR  - http://hdl.handle.net/10668/12938
T2  - Acta neuropathologica communications
LA  - en
KW  - Central core myopathy
KW  - Congenital myopathies
KW  - Core-rod myopathy
KW  - KBTBD13
KW  - LGMD
KW  - Nemaline myopathy
KW  - Aged
KW  - BTB-POZ Domain
KW  - Creatine Kinase
KW  - Green Fluorescent Proteins
KW  - Humans
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Microscopy, Electron
KW  - Models, Molecular
KW  - Muscle Proteins
KW  - Muscle, Skeletal
KW  - Muscular Dystrophies, Limb-Girdle
KW  - Mutation
KW  - NAD
KW  - Tomography Scanners, X-Ray Computed
TI  - Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD.
TY  - research article
VL  - 6
ER  -