Core-rod myopathy due to a novel mutation in BTB/POZ domain...

Acta Neuropathologica Communications 2018 / 12 Vol. 6; Iss. 1

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

Garibaldi, Matteo, Fattori, Fabiana, Bortolotti, Carlo Augusto, Brochier, Guy, Labasse, Clemence, Verardo, Margherita, Servian-Morilla, Emilia, Gibellini, Lara, Pinti, Marcello, Di Rocco, Giulia, Raff
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Volume:
6
Language:
english
Journal:
Acta Neuropathologica Communications
DOI:
10.1186/s40478-018-0595-0
Date:
December, 2018
File:
PDF, 7.58 MB
english, 2018
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