Becker myotonia
CLCN1 mutations
Thomsen myotonia
myotonia congenita
southern Italy
Journal
Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899
Informations de publication
Date de publication:
2020
2020
Historique:
received:
25
09
2019
accepted:
17
01
2020
entrez:
3
3
2020
pubmed:
3
3
2020
medline:
3
3
2020
Statut:
epublish
Résumé
Myotonia congenita is a genetic disease characterized by impaired muscle relaxation after forceful contraction (myotonia). It is caused by mutations in the
Identifiants
pubmed: 32117024
doi: 10.3389/fneur.2020.00063
pmc: PMC7016095
doi:
Types de publication
Journal Article
Langues
eng
Pagination
63Informations de copyright
Copyright © 2020 Orsini, Petillo, D'Ambrosio, Ergoli, Picillo, Scutifero, Passamano, De Luca and Politano.
Références
J Hum Genet. 2013 Sep;58(9):581-7
pubmed: 23739125
Hum Mutat. 2018 Sep;39(9):1273-1283
pubmed: 29935101
Biochim Biophys Acta. 2015 Apr;1852(4):594-606
pubmed: 24882752
Muscle Nerve. 2008 Mar;37(3):317-25
pubmed: 17990293
Front Cell Neurosci. 2015 Apr 27;9:156
pubmed: 25964741
Iran J Neurol. 2016 Jan 5;15(1):46-53
pubmed: 27141276
Front Pharmacol. 2016 May 10;7:121
pubmed: 27242528
Exp Neurol. 2014 Mar;253:28-30
pubmed: 24361411
Ann Indian Acad Neurol. 2008 Jan;11(1):20-7
pubmed: 19966974
Neuromolecular Med. 2015 Sep;17(3):285-96
pubmed: 26007199
Ind Med Gaz. 1945 Jul;80:350
pubmed: 21007261
Neurology. 2012 Jun 12;78(24):1953-8
pubmed: 22649220
Exp Neurol. 2013 Oct;248:530-40
pubmed: 23933576
Muscle Nerve. 2006 Sep;34(3):292-7
pubmed: 16770776
JAMA. 2012 Oct 3;308(13):1357-65
pubmed: 23032552
Brain. 2007 Dec;130(Pt 12):3265-74
pubmed: 17932099
Pediatr Neurol. 2014 Oct;51(4):537-41
pubmed: 25042881
Internist (Berl). 1963 Sep;4:384-92
pubmed: 14092155
Neurology. 2000 Feb 22;54(4):937-42
pubmed: 10690989
Ann Neurol. 2015 Feb;77(2):320-32
pubmed: 25515836