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Article

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

Acta neuropathologica communications - 13 Sept 2018

Garibaldi Matteo, Fattori Fabiana, Bortolotti Carlo Augusto, Brochier Guy, Labasse Clemence, Verardo Margherita, Servian-Morilla Emilia, Gibellini Lara, Pinti Marcello, Di Rocco Giulia, Raffa Salvatore, Pennisi Elena Maria, Bertini Enrico Silvio, Paradas Carmen, Romero Norma Beatriz, Antonini Giovanni

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PMID: 30208948
DOI: 10.1186/s40478-018-0595-0
PMCID: PMC6136213

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