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...

书目详细资料
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
格式:	文件
语言:	English
出版:	eLife Sciences Publications Ltd 2021-04-01
丛编:	eLife
主题:	muscle fiber myotonia sodium channel calcium channel persistent sodium current excitability
在线阅读:	https://elifesciences.org/articles/65691

相似书籍

Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4
由: Serena Pagliarani, et al.
出版: (2020-04-01)

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

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

Anesthesia Experience in a Patient with Myotonia Congenita
由: Yeşim Cokay Abut, et al.
出版: (2019-06-01)

CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita
由: Chiara Orsini, et al.
出版: (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
由: Kevin Jehasse, et al.
出版: (2021-02-01)

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

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

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

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

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

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

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

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

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

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

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

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

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

An unusual case with myotonia
由: Yu-Wei Da, et al.
出版: (2013-03-01)

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

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

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

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

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

Sodium Channels /
由: Hoke, Hildegard, author 640011
出版: (2012)

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

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

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

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

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

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

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

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

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