Novel NtA and LG1 Mutations in Agrin in a Single Patient Causes Congenital Myasthenic Syndrome.
AGRN
agrin
congenital myasthenic syndrome
missense mutation
whole-exome sequencing
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:
07
12
2019
accepted:
12
03
2020
entrez:
25
4
2020
pubmed:
25
4
2020
medline:
25
4
2020
Statut:
epublish
Résumé
Congenital myasthenic syndrome (CMS) is a group of genetic disorders of neuromuscular transmission that is characterized by muscle weakness. A mutation in the gene encoding agrin (
Identifiants
pubmed: 32328026
doi: 10.3389/fneur.2020.00239
pmc: PMC7160337
doi:
Types de publication
Case Reports
Langues
eng
Pagination
239Informations de copyright
Copyright © 2020 Wang, Xiao, Huang, Liu, Xiong, Li, Mao and Liu.
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