A Homozygous Deep Intronic Mutation Alters the Splicing of Nebulin Gene in a Patient With Nemaline Myopathy.
NEB
alternative splicing
nebulin
nebulin isoforms
nemalin myopathy
neuromuscular disorder
Journal
Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899
Informations de publication
Date de publication:
2021
2021
Historique:
received:
28
01
2021
accepted:
11
05
2021
entrez:
2
7
2021
pubmed:
3
7
2021
medline:
3
7
2021
Statut:
epublish
Résumé
Nemaline myopathy is a rare disorder affecting the muscle sarcomere. Mutations in nebulin gene (
Identifiants
pubmed: 34211429
doi: 10.3389/fneur.2021.660113
pmc: PMC8239344
doi:
Types de publication
Journal Article
Langues
eng
Pagination
660113Informations de copyright
Copyright © 2021 Laflamme, Lace, Thonta Setty, Rioux, Labrie, Droit, Chrestian and Rivest.
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.
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