ClC-1 Chloride Channel: Inputs on the Structure-Function Relationship of Myotonia Congenita-Causing Mutations.
channelopathy
chloride channel
electrophysiology
mutation
myotonia
Journal
Biomedicines
ISSN: 2227-9059
Titre abrégé: Biomedicines
Pays: Switzerland
ID NLM: 101691304
Informations de publication
Date de publication:
24 Sep 2023
24 Sep 2023
Historique:
received:
24
07
2023
revised:
11
08
2023
accepted:
24
08
2023
medline:
28
10
2023
pubmed:
28
10
2023
entrez:
28
10
2023
Statut:
epublish
Résumé
Myotonia congenita is a hereditary muscle disease mainly characterized by muscle hyperexcitability, which leads to a sustained burst of discharges that correlates with the magnitude and duration of involuntary aftercontractions, muscle stiffness, and hypertrophy. Mutations in the chloride voltage-gated channel 1 (
Identifiants
pubmed: 37892996
pii: biomedicines11102622
doi: 10.3390/biomedicines11102622
pmc: PMC10604815
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Subventions
Organisme : Fondazione AIRC per la Ricerca sul Cancro
ID : IG 21558
Organisme : Italian Research Ministry
ID : PRIN 20174TB8KW
Organisme : Fondazione Telethon
ID : GMR22T102
Organisme : Fondazione Telethon / Cariplo
ID : GJC22008
Organisme : Universidad de Costa Rica
ID : 742-B4-318
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