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

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

Acta Neuropathologica Communications（2018）

引用 14|浏览67
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关键词
Congenital myopathies,KBTBD13,Core-rod myopathy,Nemaline myopathy,Central core myopathy,LGMD
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