Identification of a Novel
SYT2 mutation
electrophysiological testing
first de novo mutation
hereditary motor neuropathy
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
22 10 2020
22 10 2020
Historique:
received:
15
09
2020
revised:
19
10
2020
accepted:
20
10
2020
entrez:
27
10
2020
pubmed:
28
10
2020
medline:
23
7
2021
Statut:
epublish
Résumé
To report the first Genetic testing was carried out, including clinical exome sequencing for the proband and Sanger sequencing for the proband and his parents. We described the clinical and electrophysiological features found in the patient. We reported a proband with a new In this study we reinforced the association between
Identifiants
pubmed: 33105646
pii: genes11111238
doi: 10.3390/genes11111238
pmc: PMC7690400
pii:
doi:
Substances chimiques
SYT2 protein, human
0
Synaptotagmin II
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Références
J Neurol. 2014 May;261(5):970-82
pubmed: 24627108
Cell. 1995 Mar 24;80(6):929-38
pubmed: 7697723
Mol Genet Genomic Med. 2018 Nov;6(6):1068-1078
pubmed: 30318729
Nature. 2002 Jul 18;418(6895):340-4
pubmed: 12110842
Neurol Genet. 2018 Oct 22;4(6):e282
pubmed: 30533528
Neurology. 2015 Dec 1;85(22):1964-71
pubmed: 26519543
Am J Hum Genet. 2014 Sep 4;95(3):332-9
pubmed: 25192047
J Neurosci. 2013 Jan 2;33(1):187-200
pubmed: 23283333
J Neurol Neurosurg Psychiatry. 2012 Jan;83(1):6-14
pubmed: 22028385
Neurology. 2017 Mar 28;88(13):1226-1234
pubmed: 28251916
Genet Med. 2017 Feb;19(2):249-255
pubmed: 27854360
Cell. 1993 Sep 24;74(6):1125-34
pubmed: 8104705
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868