Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD
oleh: Matteo Garibaldi, Fabiana Fattori, Carlo Augusto Bortolotti, Guy Brochier, Clemence Labasse, Margherita Verardo, Emilia Servian-Morilla, Lara Gibellini, Marcello Pinti, Giulia Di Rocco, Salvatore Raffa, Elena Maria Pennisi, Enrico Silvio Bertini, Carmen Paradas, Norma Beatriz Romero, Giovanni Antonini
| Format: | Article |
|---|---|
| Diterbitkan: | BMC 2018-09-01 |
Deskripsi
Subjek
Congenital myopathies; KBTBD13; Core-rod myopathy; Nemaline myopathy; Central core myopathy; LGMD