Case report: Novel
NaV1.4 voltage-gated sodium channel
complex I deficiency
genetic testing
ion channel gene defect
ion channels
loss of function (LOF)
sodium channel paralogs
whole exome sequencing
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2022
2022
Historique:
received:
15
05
2022
accepted:
01
08
2022
entrez:
12
9
2022
pubmed:
13
9
2022
medline:
13
9
2022
Statut:
epublish
Résumé
We present a now 18-year-old female patient with a severe congenital myopathy phenotype, originally diagnosed as mitochondrial myopathy, however later revealed to constitute a
Identifiants
pubmed: 36090556
doi: 10.3389/fped.2022.944784
pmc: PMC9462513
doi:
Types de publication
Case Reports
Langues
eng
Pagination
944784Informations de copyright
Copyright © 2022 Berghold, Koko, Berutti and Plecko.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
Genet Med. 2018 Sep;20(9):1045-1053
pubmed: 29095814
Eur J Neurol. 2011 Jan;18(1):191-4
pubmed: 20491895
Proc Natl Acad Sci U S A. 2003 Jun 10;100(12):7377-82
pubmed: 12766226
Hum Mol Genet. 2016 Aug 15;25(16):3395-3406
pubmed: 27488123
Brain. 2016 Mar;139(Pt 3):674-91
pubmed: 26700687
Sci STKE. 2004 Oct 05;2004(253):re15
pubmed: 15467096
Curr Protoc Bioinformatics. 2013;43:11.10.1-11.10.33
pubmed: 25431634
Semin Pediatr Neurol. 2013 Sep;20(3):202-15
pubmed: 24331362
Front Neurol. 2020 Feb 13;11:77
pubmed: 32117035
Sci Rep. 2017 Apr 07;7:46227
pubmed: 28387369
Mov Disord. 2017 Apr;32(4):549-559
pubmed: 27666935
Neurology. 2016 Jan 12;86(2):161-9
pubmed: 26659129
Sci Transl Med. 2020 Aug 12;12(556):
pubmed: 32801145
Ann Neurol. 2015 May;77(5):840-50
pubmed: 25707578
Am J Hum Genet. 2017 Feb 2;100(2):267-280
pubmed: 28132688
Lancet Neurol. 2020 Nov;19(11):908-918
pubmed: 33098801
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Am J Hum Genet. 2020 Jul 2;107(1):111-123
pubmed: 32533946
J Am Coll Cardiol. 2012 Oct 9;60(15):1410-8
pubmed: 22840528
Europace. 2016 Jun;18(6):905-11
pubmed: 25842276
Brain. 2016 Jun;139(Pt 6):1688-99
pubmed: 27048647
Heart Rhythm. 2014 Jul;11(7):1176-83
pubmed: 24721456
Brain. 2022 Jan 17;:
pubmed: 35037686