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...

Deskribapen osoa

Xehetasun bibliografikoak
Egile Nagusiak:	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
Formatua:	Artikulua
Hizkuntza:	English
Argitaratua:	eLife Sciences Publications Ltd 2021-04-01
Saila:	eLife
Gaiak:	muscle fiber myotonia sodium channel calcium channel persistent sodium current excitability
Sarrera elektronikoa:	https://elifesciences.org/articles/65691

Antzeko izenburuak

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Paxilline Prevents the Onset of Myotonic Stiffness in Pharmacologically Induced Myotonia: A Preclinical Investigation
nork: Kerstin Hoppe, et al.
Argitaratua: (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
nork: S. A. Kurbatov, et al.
Argitaratua: (2016-03-01)

Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients
nork: Chaoping Hu, et al.
Argitaratua: (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
nork: Nurul Huda Musa, et al.
Argitaratua: (2023-01-01)

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Sodium Channels /
nork: Hoke, Hildegard, author 640011
Argitaratua: (2012)

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

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