Title: | Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD. |
Journal : | Acta neuropathologica communications, 6, 1 |
Authors: | Garibaldi M, Author ; Fattori F ; Bortolotti CA ; Brochier G ; Labasse C ; Verardo M ; Servian Morilla E ; Gibellini L ; Pinti M ; Di Rocco G ; Raffa S ; Pennisi EM ; Bertini ES ; Paradas C ; Romero NB ; Antonini G |
Material Type: | Article |
Publication Date: | 13/09/2018 |
Languages: | English |
Keywords: | Central core myopathy;Congenital myopathies;Core-rod myopathy;KBTBD13;LGMD;Nemaline myopathy; |
Pubmed / DOI : | DOI : 10.1186/s40478-018-0595-0 / Pubmed : 30208948 |
N° Profil MNM : | 2018092 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/30208948 |