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

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

Bibliographic Details
Main Authors: 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
Language:English
Published: BMC 2018-09-01
Series:Acta Neuropathologica Communications
Subjects:
Congenital myopathies
KBTBD13
Core-rod myopathy
Nemaline myopathy
Central core myopathy
LGMD
Online Access:http://link.springer.com/article/10.1186/s40478-018-0595-0

Internet

http://link.springer.com/article/10.1186/s40478-018-0595-0

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