Search

Your search keyword '"Core-rod myopathy"' showing total 1 results
Start Over Descriptor "Core-rod myopathy" Database Directory of Open Access Journals
1 results on '"Core-rod myopathy"'

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

Author

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, and Giovanni Antonini

Subjects
Congenital myopathies, KBTBD13, Core-rod myopathy, Nemaline myopathy, Central core myopathy, LGMD, Neurology. Diseases of the nervous system, RC346-429
Published
2018
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results