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...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς:	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
Μορφή:	Άρθρο
Γλώσσα:	English
Έκδοση:	eLife Sciences Publications Ltd 2021-04-01
Σειρά:	eLife
Θέματα:	muscle fiber myotonia sodium channel calcium channel persistent sodium current excitability
Διαθέσιμο Online:	https://elifesciences.org/articles/65691

Παρόμοια τεκμήρια

Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4
ανά: Serena Pagliarani, κ.ά.
Έκδοση: (2020-04-01)

A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment
ανά: Christian Woelfel, κ.ά.
Έκδοση: (2022-07-01)

Possible role of SCN4A skeletal muscle mutation in apnea during seizure
ανά: Dilşad Türkdoğan, κ.ά.
Έκδοση: (2019-09-01)

ClC-1 Chloride Channel: Inputs on the Structure–Function Relationship of Myotonia Congenita-Causing Mutations
ανά: Oscar Brenes, κ.ά.
Έκδοση: (2023-09-01)

Anesthesia Experience in a Patient with Myotonia Congenita
ανά: Yeşim Cokay Abut, κ.ά.
Έκδοση: (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
ανά: Kevin Jehasse, κ.ά.
Έκδοση: (2021-02-01)

CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita
ανά: Chiara Orsini, κ.ά.
Έκδοση: (2020-02-01)

Myotonia Congenita: Case Report of Becker's Variant
ανά: Okan Akşahin, κ.ά.
Έκδοση: (2022-12-01)

Myotonia congenita and myoadenylate deaminase deficiency: case report
ανά: Scola Rosana Herminia, κ.ά.
Έκδοση: (2003-01-01)

Chaperone activity of niflumic acid on ClC-1 chloride channel mutants causing myotonia congenita
ανά: Concetta Altamura, κ.ά.
Έκδοση: (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
ανά: Oscar Brenes, κ.ά.
Έκδοση: (2021-02-01)

Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients
ανά: Lorenzo Maggi, κ.ά.
Έκδοση: (2020-07-01)

Miotonia congênita: relato de sete pacientes Congenital myotonia: report of seven patients
ανά: Helga C. A. Azevedo, κ.ά.
Έκδοση: (1996-12-01)

Case report: Coexistence of myotonia congenita and Brugada syndrome in one family
ανά: Ann Cordenier, κ.ά.
Έκδοση: (2022-09-01)

Case report: A CLCN1 complex variant mutation in exon 15 in a mixed-breed dog with hereditary myotonia
ανά: Gabriel Utida Eguchi, κ.ά.
Έκδοση: (2024-11-01)

Autosomal recessive myotonia congenita, a muscle channelopathy, presenting in Nigerian siblings: A report
ανά: Ikenna O Onwuekwe, κ.ά.
Έκδοση: (2008-01-01)

Anesthetic management of a patient with sodium-channel myotonia: a case report
ανά: Naohisa Matsumoto, κ.ά.
Έκδοση: (2019-11-01)

Paxilline Prevents the Onset of Myotonic Stiffness in Pharmacologically Induced Myotonia: A Preclinical Investigation
ανά: Kerstin Hoppe, κ.ά.
Έκδοση: (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
ανά: S. A. Kurbatov, κ.ά.
Έκδοση: (2016-03-01)

Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients
ανά: Chaoping Hu, κ.ά.
Έκδοση: (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
ανά: Nurul Huda Musa, κ.ά.
Έκδοση: (2023-01-01)

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

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

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

Sodium Channels Involved in the Initiation of Action Potentials in Invertebrate and Mammalian Neurons
ανά: Daria Y Romanova, κ.ά.
Έκδοση: (2022-08-01)

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

Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita
ανά: Sabrina Lucchiari, κ.ά.
Έκδοση: (2024-12-01)

An unusual case with myotonia
ανά: Yu-Wei Da, κ.ά.
Έκδοση: (2013-03-01)

The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia
ανά: Quanquan Wang, κ.ά.
Έκδοση: (2022-03-01)

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

The role of surface electromyography in the assessment of myotonia in Parkinson's disease
ανά: LIU Zai‑chao, κ.ά.
Έκδοση: (2024-03-01)

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

Myotonia Congenita in Australian Merino Sheep with a Missense Variant in <i>CLCN1</i>
ανά: Leah K. Manning, κ.ά.
Έκδοση: (2024-12-01)

Moroccan consanguineous family with Becker myotonia and review
ανά: Ilham Ratbi, κ.ά.
Έκδοση: (2011-01-01)

Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report
ανά: Peter Sparber, κ.ά.
Έκδοση: (2020-10-01)

Sodium Channels /
ανά: Hoke, Hildegard, author 640011
Έκδοση: (2012)

Becker congenital myotonia in black African with molecular findings
ανά: Simon Azonbakin, κ.ά.
Έκδοση: (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
ανά: Fernando Morales, κ.ά.
Έκδοση: (2008-03-01)

Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus
ανά: Nicole A. Hawkins, κ.ά.
Έκδοση: (2011-03-01)