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...
Prif Awduron: | 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 |
---|---|
Fformat: | Erthygl |
Iaith: | English |
Cyhoeddwyd: |
eLife Sciences Publications Ltd
2021-04-01
|
Cyfres: | eLife |
Pynciau: | |
Mynediad Ar-lein: | https://elifesciences.org/articles/65691 |
Eitemau Tebyg
-
A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment
gan: Christian Woelfel, et al.
Cyhoeddwyd: (2022-07-01) -
ClC-1 Chloride Channel: Inputs on the Structure–Function Relationship of Myotonia Congenita-Causing Mutations
gan: Oscar Brenes, et al.
Cyhoeddwyd: (2023-09-01) -
Anesthesia Experience in a Patient with Myotonia Congenita
gan: Yeşim Cokay Abut, et al.
Cyhoeddwyd: (2019-06-01) -
Functional analysis of the F337C mutation in the CLCN1 gene associated with dominant myotonia congenita reveals an alteration of the macroscopic conductance and voltage dependence
gan: Kevin Jehasse, et al.
Cyhoeddwyd: (2021-02-01) -
Myotonia Congenita: Case Report of Becker's Variant
gan: Okan Akşahin, et al.
Cyhoeddwyd: (2022-12-01)