Title: | Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients |
Journal : | Neuromuscular disorders : NMD |
Authors: | Brugnoni R ; Maggi L ; Canioni E ; Verde F ; Gallone A ; Ariatti A ; Filosto M ; Petrelli C ; Logullo FO ; Esposito M ; Ruggiero L ; Tonin P ; Riguzzi P ; Pegoraro E ; Torri F ; Ricci G ; Siciliano G ; Silani V ; Merlini L ; De Pasqua S ; Liguori R ; Pini A ; Mariotti C ; Moroni I ; Imbrici P ; Desaphy JF ; Mantegazza R ; Bernasconi P |
Material Type: | Article |
Publisher: | England, 14/12/2020 |
Languages: | English |
Keywords: | CLCN1 gene;Next-generation sequencing;Non-dystrophic myotonias;Periodic paralyses;SCN4A gene;Skeletal muscle channelopathies; |
Pubmed / DOI : | Pubmed : 33573884 / DOI : 10.1016/j.nmd.2020.12.003 |
N° Profil MNM : | 2021022 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/33573884 |