Congenital myasthenic syndrome due to a
congenital myasthenic syndromes
envelopathy
myasthenia
neuromuscular junction
nuclear envelope protein
Journal
Brain communications
ISSN: 2632-1297
Titre abrégé: Brain Commun
Pays: England
ID NLM: 101755125
Informations de publication
Date de publication:
2020
2020
Historique:
received:
26
05
2020
revised:
24
07
2020
accepted:
12
08
2020
entrez:
20
11
2020
pubmed:
21
11
2020
medline:
21
11
2020
Statut:
epublish
Résumé
Congenital myasthenic syndromes are inherited disorders characterized by fatiguable muscle weakness resulting from impaired signal transmission at the neuromuscular junction. Causative mutations have been identified in genes that can affect the synaptic function or structure. We identified a homozygous frameshift deletion c.127delC, p. Pro43fs in
Identifiants
pubmed: 33215087
doi: 10.1093/braincomms/fcaa174
pii: fcaa174
pmc: PMC7660151
doi:
Types de publication
Journal Article
Langues
eng
Pagination
fcaa174Subventions
Organisme : Medical Research Council
ID : MR/M006824/1
Pays : United Kingdom
Informations de copyright
© The Author(s) (2020). Published by Oxford University Press on behalf of the Guarantors of Brain.
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