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...
Autores principales: | 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 |
---|---|
Formato: | Artículo |
Lenguaje: | English |
Publicado: |
eLife Sciences Publications Ltd
2021-04-01
|
Colección: | eLife |
Materias: | |
Acceso en línea: | https://elifesciences.org/articles/65691 |
Ejemplares similares
-
Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4
por: Serena Pagliarani, et al.
Publicado: (2020-04-01) -
A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment
por: Christian Woelfel, et al.
Publicado: (2022-07-01) -
ClC-1 Chloride Channel: Inputs on the Structure–Function Relationship of Myotonia Congenita-Causing Mutations
por: Oscar Brenes, et al.
Publicado: (2023-09-01) -
Anesthesia Experience in a Patient with Myotonia Congenita
por: Yeşim Cokay Abut, et al.
Publicado: (2019-06-01) -
CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita
por: Chiara Orsini, et al.
Publicado: (2020-02-01)