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...

Bibliografiset tiedot
Päätekijät:	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
Aineistotyyppi:	Artikkeli
Kieli:	English
Julkaistu:	eLife Sciences Publications Ltd 2021-04-01
Sarja:	eLife
Aiheet:	muscle fiber myotonia sodium channel calcium channel persistent sodium current excitability
Linkit:	https://elifesciences.org/articles/65691

Samankaltaisia teoksia

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

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

Possible role of SCN4A skeletal muscle mutation in apnea during seizure
Tekijä: Dilşad Türkdoğan, et al.
Julkaistu: (2019-09-01)

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

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

CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita
Tekijä: Chiara Orsini, et al.
Julkaistu: (2020-02-01)

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

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

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

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

Miotonia congênita: relato de sete pacientes Congenital myotonia: report of seven patients
Tekijä: Helga C. A. Azevedo, et al.
Julkaistu: (1996-12-01)

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

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

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

Anesthetic management of a patient with sodium-channel myotonia: a case report
Tekijä: Naohisa Matsumoto, et al.
Julkaistu: (2019-11-01)

Paxilline Prevents the Onset of Myotonic Stiffness in Pharmacologically Induced Myotonia: A Preclinical Investigation
Tekijä: Kerstin Hoppe, et al.
Julkaistu: (2020-11-01)

A case of Becker myotonia with pseudodominant inheritance: сurrent approaches to the differential diagnosis of Thomsen’s and Becker's myotonia congenita
Tekijä: S. A. Kurbatov, et al.
Julkaistu: (2016-03-01)

Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients
Tekijä: Chaoping Hu, et al.
Julkaistu: (2021-11-01)

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

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

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

Corrigendum: Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in SCN4A
Tekijä: Nathaniel Elia, et al.
Julkaistu: (2020-03-01)

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

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

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

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

The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia
Tekijä: Quanquan Wang, et al.
Julkaistu: (2022-03-01)

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

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

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

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

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

Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report
Tekijä: Peter Sparber, et al.
Julkaistu: (2020-10-01)

Sodium Channels /
Tekijä: Hoke, Hildegard, author 640011
Julkaistu: (2012)

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

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