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...

תיאור מלא

מידע ביבליוגרפי
Main Authors:	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
פורמט:	Article
שפה:	English
יצא לאור:	eLife Sciences Publications Ltd 2021-04-01
סדרה:	eLife
נושאים:	muscle fiber myotonia sodium channel calcium channel persistent sodium current excitability
גישה מקוונת:	https://elifesciences.org/articles/65691

פריטים דומים

A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment
מאת: Christian Woelfel, et al.
יצא לאור: (2022-07-01)

ClC-1 Chloride Channel: Inputs on the Structure–Function Relationship of Myotonia Congenita-Causing Mutations
מאת: Oscar Brenes, et al.
יצא לאור: (2023-09-01)

Anesthesia Experience in a Patient with Myotonia Congenita
מאת: Yeşim Cokay Abut, et al.
יצא לאור: (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
מאת: Kevin Jehasse, et al.
יצא לאור: (2021-02-01)

Myotonia Congenita: Case Report of Becker's Variant
מאת: Okan Akşahin, et al.
יצא לאור: (2022-12-01)

Myotonia congenita and myoadenylate deaminase deficiency: case report
מאת: Scola Rosana Herminia, et al.
יצא לאור: (2003-01-01)

Chaperone activity of niflumic acid on ClC-1 chloride channel mutants causing myotonia congenita
מאת: Concetta Altamura, et al.
יצא לאור: (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
מאת: Oscar Brenes, et al.
יצא לאור: (2021-02-01)

Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients
מאת: Lorenzo Maggi, et al.
יצא לאור: (2020-07-01)

Case report: Coexistence of myotonia congenita and Brugada syndrome in one family
מאת: Ann Cordenier, et al.
יצא לאור: (2022-09-01)

Autosomal recessive myotonia congenita, a muscle channelopathy, presenting in Nigerian siblings: A report
מאת: Ikenna O Onwuekwe, et al.
יצא לאור: (2008-01-01)

Case report: A CLCN1 complex variant mutation in exon 15 in a mixed-breed dog with hereditary myotonia
מאת: Gabriel Utida Eguchi, et al.
יצא לאור: (2024-11-01)

Anesthetic management of a patient with sodium-channel myotonia: a case report
מאת: Naohisa Matsumoto, et al.
יצא לאור: (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
מאת: S. A. Kurbatov, et al.
יצא לאור: (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
מאת: Nurul Huda Musa, et al.
יצא לאור: (2023-01-01)

Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia
מאת: Concetta Altamura, et al.
יצא לאור: (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
מאת: S. A. Kurbatov, et al.
יצא לאור: (2022-06-01)

Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in SCN4A
מאת: Nathaniel Elia, et al.
יצא לאור: (2020-02-01)

Sodium Channels Involved in the Initiation of Action Potentials in Invertebrate and Mammalian Neurons
מאת: Daria Y Romanova, et al.
יצא לאור: (2022-08-01)

Mapping of the FGF14:Nav1.6 complex interface reveals FLPK as a functionally active peptide modulating excitability
מאת: Aditya K. Singh, et al.
יצא לאור: (2020-07-01)

Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita
מאת: Sabrina Lucchiari, et al.
יצא לאור: (2024-12-01)

An unusual case with myotonia
מאת: Yu-Wei Da, et al.
יצא לאור: (2013-03-01)

Clinico‑genetic heterogeneity of chondrodysthrophic myotonia
מאת: N. A. Shnayder
יצא לאור: (2015-02-01)

The role of surface electromyography in the assessment of myotonia in Parkinson's disease
מאת: LIU Zai‑chao, et al.
יצא לאור: (2024-03-01)

Myotonia Congenita in Australian Merino Sheep with a Missense Variant in <i>CLCN1</i>
מאת: Leah K. Manning, et al.
יצא לאור: (2024-12-01)

Moroccan consanguineous family with Becker myotonia and review
מאת: Ilham Ratbi, et al.
יצא לאור: (2011-01-01)

Brain Sodium Channel and Febrile Seizure Mechanism
מאת: J Gordon Millichap
יצא לאור: (2009-10-01)

Sodium Channels /
מאת: Hoke, Hildegard, author 640011
יצא לאור: (2012)

Becker congenital myotonia in black African with molecular findings
מאת: Simon Azonbakin, et al.
יצא לאור: (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
מאת: Fernando Morales, et al.
יצא לאור: (2008-03-01)

Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus
מאת: Nicole A. Hawkins, et al.
יצא לאור: (2011-03-01)

Muscle Ultrasound Shear Wave Elastography as a Non-Invasive Biomarker in Myotonia
מאת: Cornelius Kronlage, et al.
יצא לאור: (2021-01-01)

A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
מאת: Mohammad Miryounesi, et al.
יצא לאור: (2016-09-01)

Regulation of Lung Epithelial Sodium Channels by Cytokines and Chemokines
מאת: Brandi M. Wynne, et al.
יצא לאור: (2017-07-01)

Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report
מאת: João Igor Dantas Landim, et al.
יצא לאור: (2023-04-01)

Voltage-gated channel mechanosensitivity: Fact or Friction?
מאת: Catherine E Morris
יצא לאור: (2011-05-01)

Na+ channel β subunits: Overachievers of the ion channel family
מאת: William J Brackenbury, et al.
יצא לאור: (2011-09-01)

Late Sodium Current Inhibitors as Potential Antiarrhythmic Agents
מאת: Balázs Horváth, et al.
יצא לאור: (2020-04-01)

Marine Toxins That Target Voltage-gated Sodium Channels
מאת: Robert J. French, et al.
יצא לאור: (2006-04-01)

Voltage-gated sodium channels: biophysics, pharmacology, and related channelopathies
מאת: Eleonora eSavio Galimberti, et al.
יצא לאור: (2012-07-01)