Title: | The myotubular and centronuclear myopathy patient registry: a multifunctional tool for translational research |
Journal : | Neuromuscular disorders : NMD |
Authors: | Bullivant J ; Sen A ; Page J ; Graham RJ ; Jungbluth H ; Schara-Schmidt U ; Lynch O ; Bonnemann C ; Hollander AD ; Lennox A ; Moat D ; Saegert C ; Amburgey K ; Buj-Bello A ; Dowling JJ ; Marini-Bettolo C |
Material Type: | Article |
Publication Date: | 30/10/2023 |
Languages: | English |
Keywords : | case studies ; centronuclear myopathy ; congenital myopathy ; patient registers ; phenotypes ; X-linked myotubular myopathy |
Keywords: | Centronuclear ; Myopathy ; Myotubular ; Registry ; Translational |
Pubmed / DOI : | Pubmed : 38061948 / DOI : 10.1016/j.nmd.2023.10.014 |
N° Profil MNM : | 2023121 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/38061948 |
See also : |