The mechanism underlying transient weakness in myotonia congenita

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...

Podrobná bibliografie
Hlavní autoři:	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
Médium:	Článek
Jazyk:	English
Vydáno:	eLife Sciences Publications Ltd 2021-04-01
Edice:	eLife
Témata:	muscle fiber myotonia sodium channel calcium channel persistent sodium current excitability
On-line přístup:	https://elifesciences.org/articles/65691

Podobné jednotky

A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment
Autor: Christian Woelfel, a další
Vydáno: (2022-07-01)

ClC-1 Chloride Channel: Inputs on the Structure–Function Relationship of Myotonia Congenita-Causing Mutations
Autor: Oscar Brenes, a další
Vydáno: (2023-09-01)

Anesthesia Experience in a Patient with Myotonia Congenita
Autor: Yeşim Cokay Abut, a další
Vydáno: (2019-06-01)

CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita
Autor: Chiara Orsini, a další
Vydáno: (2020-02-01)

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
Autor: Kevin Jehasse, a další
Vydáno: (2021-02-01)

Myotonia Congenita: Case Report of Becker's Variant
Autor: Okan Akşahin, a další
Vydáno: (2022-12-01)

Myotonia congenita and myoadenylate deaminase deficiency: case report
Autor: Scola Rosana Herminia, a další
Vydáno: (2003-01-01)

Chaperone activity of niflumic acid on ClC-1 chloride channel mutants causing myotonia congenita
Autor: Concetta Altamura, a další
Vydáno: (2022-08-01)

Functional and Structural Characterization of ClC-1 and Na<sub>v</sub>1.4 Channels Resulting from <i>CLCN1</i> and <i>SCN4A</i> Mutations Identified Alone and Coexisting in Myotonic Patients
Autor: Oscar Brenes, a další
Vydáno: (2021-02-01)

Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients
Autor: Lorenzo Maggi, a další
Vydáno: (2020-07-01)

Case report: Coexistence of myotonia congenita and Brugada syndrome in one family
Autor: Ann Cordenier, a další
Vydáno: (2022-09-01)

Autosomal recessive myotonia congenita, a muscle channelopathy, presenting in Nigerian siblings: A report
Autor: Ikenna O Onwuekwe, a další
Vydáno: (2008-01-01)

Case report: A CLCN1 complex variant mutation in exon 15 in a mixed-breed dog with hereditary myotonia
Autor: Gabriel Utida Eguchi, a další
Vydáno: (2024-11-01)

Anesthetic management of a patient with sodium-channel myotonia: a case report
Autor: Naohisa Matsumoto, a další
Vydáno: (2019-11-01)

A case of Becker myotonia with pseudodominant inheritance: сurrent approaches to the differential diagnosis of Thomsen’s and Becker's myotonia congenita
Autor: S. A. Kurbatov, a další
Vydáno: (2016-03-01)

Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family
Autor: Nurul Huda Musa, a další
Vydáno: (2023-01-01)

Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia
Autor: Concetta Altamura, a další
Vydáno: (2020-09-01)

Myotonia and myotonic discharges of dystrophic myotonia type 1 at the first decade onset: a literature review and data of the case series
Autor: S. A. Kurbatov, a další
Vydáno: (2022-06-01)

Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in SCN4A
Autor: Nathaniel Elia, a další
Vydáno: (2020-02-01)

Sodium Channels Involved in the Initiation of Action Potentials in Invertebrate and Mammalian Neurons
Autor: Daria Y Romanova, a další
Vydáno: (2022-08-01)

Mapping of the FGF14:Nav1.6 complex interface reveals FLPK as a functionally active peptide modulating excitability
Autor: Aditya K. Singh, a další
Vydáno: (2020-07-01)

Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita
Autor: Sabrina Lucchiari, a další
Vydáno: (2024-12-01)

An unusual case with myotonia
Autor: Yu-Wei Da, a další
Vydáno: (2013-03-01)

Clinico‑genetic heterogeneity of chondrodysthrophic myotonia
Autor: N. A. Shnayder
Vydáno: (2015-02-01)

The role of surface electromyography in the assessment of myotonia in Parkinson's disease
Autor: LIU Zai‑chao, a další
Vydáno: (2024-03-01)

Myotonia Congenita in Australian Merino Sheep with a Missense Variant in <i>CLCN1</i>
Autor: Leah K. Manning, a další
Vydáno: (2024-12-01)

Moroccan consanguineous family with Becker myotonia and review
Autor: Ilham Ratbi, a další
Vydáno: (2011-01-01)

Brain Sodium Channel and Febrile Seizure Mechanism
Autor: J Gordon Millichap
Vydáno: (2009-10-01)

Sodium Channels /
Autor: Hoke, Hildegard, author 640011
Vydáno: (2012)

Becker congenital myotonia in black African with molecular findings
Autor: Simon Azonbakin, a další
Vydáno: (2022-04-01)

Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene
Autor: Fernando Morales, a další
Vydáno: (2008-03-01)

Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus
Autor: Nicole A. Hawkins, a další
Vydáno: (2011-03-01)

Muscle Ultrasound Shear Wave Elastography as a Non-Invasive Biomarker in Myotonia
Autor: Cornelius Kronlage, a další
Vydáno: (2021-01-01)

A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
Autor: Mohammad Miryounesi, a další
Vydáno: (2016-09-01)

Regulation of Lung Epithelial Sodium Channels by Cytokines and Chemokines
Autor: Brandi M. Wynne, a další
Vydáno: (2017-07-01)

Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report
Autor: João Igor Dantas Landim, a další
Vydáno: (2023-04-01)

Voltage-gated channel mechanosensitivity: Fact or Friction?
Autor: Catherine E Morris
Vydáno: (2011-05-01)

Na+ channel β subunits: Overachievers of the ion channel family
Autor: William J Brackenbury, a další
Vydáno: (2011-09-01)

Late Sodium Current Inhibitors as Potential Antiarrhythmic Agents
Autor: Balázs Horváth, a další
Vydáno: (2020-04-01)

Marine Toxins That Target Voltage-gated Sodium Channels
Autor: Robert J. French, a další
Vydáno: (2006-04-01)