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...

Бүрэн тодорхойлолт

Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид:	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
Формат:	Өгүүллэг
Хэл сонгох:	English
Хэвлэсэн:	eLife Sciences Publications Ltd 2021-04-01
Цуврал:	eLife
Нөхцлүүд:	muscle fiber myotonia sodium channel calcium channel persistent sodium current excitability
Онлайн хандалт:	https://elifesciences.org/articles/65691

Ижил төстэй зүйлс

Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4
-н: Serena Pagliarani, зэрэг
Хэвлэсэн: (2020-04-01)

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

Possible role of SCN4A skeletal muscle mutation in apnea during seizure
-н: Dilşad Türkdoğan, зэрэг
Хэвлэсэн: (2019-09-01)

ClC-1 Chloride Channel: Inputs on the Structure–Function Relationship of Myotonia Congenita-Causing Mutations
-н: Oscar Brenes, зэрэг
Хэвлэсэн: (2023-09-01)

Anesthesia Experience in a Patient with Myotonia Congenita
-н: Yeşim Cokay Abut, зэрэг
Хэвлэсэн: (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
-н: Kevin Jehasse, зэрэг
Хэвлэсэн: (2021-02-01)

CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita
-н: Chiara Orsini, зэрэг
Хэвлэсэн: (2020-02-01)

Myotonia Congenita: Case Report of Becker's Variant
-н: Okan Akşahin, зэрэг
Хэвлэсэн: (2022-12-01)

Myotonia congenita and myoadenylate deaminase deficiency: case report
-н: Scola Rosana Herminia, зэрэг
Хэвлэсэн: (2003-01-01)

Chaperone activity of niflumic acid on ClC-1 chloride channel mutants causing myotonia congenita
-н: Concetta Altamura, зэрэг
Хэвлэсэн: (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
-н: Oscar Brenes, зэрэг
Хэвлэсэн: (2021-02-01)

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

Miotonia congênita: relato de sete pacientes Congenital myotonia: report of seven patients
-н: Helga C. A. Azevedo, зэрэг
Хэвлэсэн: (1996-12-01)

Case report: Coexistence of myotonia congenita and Brugada syndrome in one family
-н: Ann Cordenier, зэрэг
Хэвлэсэн: (2022-09-01)

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

Autosomal recessive myotonia congenita, a muscle channelopathy, presenting in Nigerian siblings: A report
-н: Ikenna O Onwuekwe, зэрэг
Хэвлэсэн: (2008-01-01)

Anesthetic management of a patient with sodium-channel myotonia: a case report
-н: Naohisa Matsumoto, зэрэг
Хэвлэсэн: (2019-11-01)

Paxilline Prevents the Onset of Myotonic Stiffness in Pharmacologically Induced Myotonia: A Preclinical Investigation
-н: Kerstin Hoppe, зэрэг
Хэвлэсэн: (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
-н: S. A. Kurbatov, зэрэг
Хэвлэсэн: (2016-03-01)

Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients
-н: Chaoping Hu, зэрэг
Хэвлэсэн: (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
-н: Nurul Huda Musa, зэрэг
Хэвлэсэн: (2023-01-01)

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

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

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

Sodium Channels Involved in the Initiation of Action Potentials in Invertebrate and Mammalian Neurons
-н: Daria Y Romanova, зэрэг
Хэвлэсэн: (2022-08-01)

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

Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita
-н: Sabrina Lucchiari, зэрэг
Хэвлэсэн: (2024-12-01)

An unusual case with myotonia
-н: Yu-Wei Da, зэрэг
Хэвлэсэн: (2013-03-01)

The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia
-н: Quanquan Wang, зэрэг
Хэвлэсэн: (2022-03-01)

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

The role of surface electromyography in the assessment of myotonia in Parkinson's disease
-н: LIU Zai‑chao, зэрэг
Хэвлэсэн: (2024-03-01)

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

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

Moroccan consanguineous family with Becker myotonia and review
-н: Ilham Ratbi, зэрэг
Хэвлэсэн: (2011-01-01)

Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report
-н: Peter Sparber, зэрэг
Хэвлэсэн: (2020-10-01)

Sodium Channels /
-н: Hoke, Hildegard, author 640011
Хэвлэсэн: (2012)

Becker congenital myotonia in black African with molecular findings
-н: Simon Azonbakin, зэрэг
Хэвлэсэн: (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
-н: Fernando Morales, зэрэг
Хэвлэсэн: (2008-03-01)

Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus
-н: Nicole A. Hawkins, зэрэг
Хэвлэсэн: (2011-03-01)