The mechanism underlying transient weakness in myotonia congenita
In addition to the hallmark muscle stiffness, patients with recessive myotonia congenita (Becker disease) experience debilitating bouts of transient weakness that remain poorly understood despite years of study. We performed intracellular recordings from muscle of both genetic and pharmacologic mous...
Auteurs principaux: | Jessica H Myers, Kirsten Denman, Chris DuPont, Ahmed A Hawash, Kevin R Novak, Andrew Koesters, Manfred Grabner, Anamika Dayal, Andrew A Voss, Mark M Rich |
---|---|
Format: | Article |
Langue: | English |
Publié: |
eLife Sciences Publications Ltd
2021-04-01
|
Collection: | eLife |
Sujets: | |
Accès en ligne: | https://elifesciences.org/articles/65691 |
Documents similaires
-
Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4
par: Serena Pagliarani, et autres
Publié: (2020-04-01) -
A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment
par: Christian Woelfel, et autres
Publié: (2022-07-01) -
Possible role of SCN4A skeletal muscle mutation in apnea during seizure
par: Dilşad Türkdoğan, et autres
Publié: (2019-09-01) -
ClC-1 Chloride Channel: Inputs on the Structure–Function Relationship of Myotonia Congenita-Causing Mutations
par: Oscar Brenes, et autres
Publié: (2023-09-01) -
Anesthesia Experience in a Patient with Myotonia Congenita
par: Yeşim Cokay Abut, et autres
Publié: (2019-06-01)