RT Journal Article
T1 Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD.
A1 Garibaldi, Matteo
A1 Fattori, Fabiana
A1 Bortolotti, Carlo Augusto
A1 Brochier, Guy
A1 Labasse, Clemence
A1 Verardo, Margherita
A1 Servian-Morilla, Emilia
A1 Gibellini, Lara
A1 Pinti, Marcello
A1 Di Rocco, Giulia
A1 Raffa, Salvatore
A1 Pennisi, Elena Maria
A1 Bertini, Enrico Silvio
A1 Paradas, Carmen
A1 Romero, Norma Beatriz
A1 Antonini, Giovanni
K1 Central core myopathy
K1 Congenital myopathies
K1 Core-rod myopathy
K1 KBTBD13
K1 LGMD
K1 Nemaline myopathy
YR 2018
FD 2018-09-13
LK http://hdl.handle.net/10668/12938
UL http://hdl.handle.net/10668/12938
LA en
DS RISalud
RD Apr 7, 2025