Clinical Observation: Effect of a Second Transpositioned Variant in a Family with Autosomal Dominant Ryanodine Receptor-1-Related Disease.
central core disease
malignant hyperthermia susceptibility
ryanodine receptor-1 gene
Journal
Journal of pediatric genetics
ISSN: 2146-4596
Titre abrégé: J Pediatr Genet
Pays: Germany
ID NLM: 101589859
Informations de publication
Date de publication:
Jun 2020
Jun 2020
Historique:
received:
13
06
2019
accepted:
05
09
2019
entrez:
29
4
2020
pubmed:
29
4
2020
medline:
29
4
2020
Statut:
ppublish
Résumé
Mutations in the ryanodine receptor-1 (
Identifiants
pubmed: 32341817
doi: 10.1055/s-0039-1698445
pii: 1900046
pmc: PMC7183409
doi:
Types de publication
Case Reports
Langues
eng
Pagination
121-124Informations de copyright
© Thieme Medical Publishers.
Déclaration de conflit d'intérêts
Conflict of Interest None declared.
Références
Biophys J. 2004 Nov;87(5):3193-204
pubmed: 15347586
Neuromuscul Disord. 2002 Dec;12(10):930-8
pubmed: 12467748
Anesthesiology. 2005 Mar;102(3):515-21
pubmed: 15731587
Clin Genet. 2009 Apr;75(4):394-400
pubmed: 19236432
Neuromuscul Disord. 2015 May;25(5):397-402
pubmed: 25747005
J Gen Physiol. 2003 Apr;121(4):277-86
pubmed: 12642598
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Brain. 2003 Nov;126(Pt 11):2341-9
pubmed: 12937085
Orphanet J Rare Dis. 2007 May 15;2:25
pubmed: 17504518
Clin Genet. 2001 Mar;59(3):178-84
pubmed: 11260227
Hum Mutat. 2002 Aug;20(2):88-97
pubmed: 12124989
Eur J Neurol. 2015 Jul;22(7):1094-112
pubmed: 25960145