Title: | Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei |
Journal : | Journal of Neuromuscular Diseases, 5, 2 |
Authors: | Lornage X, Author ; Sabouraud P ; Lannes B ; Gaillard D ; Schneider R ; Deleuze JF ; Boland A ; Thompson J ; Bohm J ; Biancalana V ; Laporte J |
Material Type: | Article |
Publication Date: | 2018 |
Size: | p 257 |
Languages: | English |
Keywords: | Centronuclear myopathy;MTM1;SPEG;congenital myopathy;myotubular myopathy;myotubularin; |
Pubmed / DOI : | DOI : 10.3233/JND-170265 / Pubmed : 29614691 |
N° Profil MNM : | 2018041 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/29614691 |