Cargando…

Electrophysiological Characteristics of Six Mutations in hClC-1 of Korean Patients with Myotonia Congenita

ClC-1 is a member of a large family of voltage-gated chloride channels, abundantly expressed in human skeletal muscle. Mutations in ClC-1 are associated with myotonia congenita (MC) and result in loss of regulation of membrane excitability in skeletal muscle. We studied the electrophysiological char...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ha, Kotdaji, Kim, Sung-Young, Hong, Chansik, Myeong, Jongyun, Shin, Jin-Hong, Kim, Dae-Seong, Jeon, Ju-Hong, So, Insuk
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Korean Society for Molecular and Cellular Biology 2014
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3969040/ https://www.ncbi.nlm.nih.gov/pubmed/24625573 http://dx.doi.org/10.14348/molcells.2014.2267

Ejemplares similares

Electrophysiological characteristics of R47W and A298T mutations in CLC-1 of myotonia congenita patients and evaluation of clinical features
por: Chin, Hyung Jin, et al.
Publicado: (2017)

Myotonia Congenita Can Be Mistaken as Paroxysmal Kinesigenic Dyskinesia
por: Kim, Aryun, et al.
Publicado: (2018)

Novel CLCN1 Mutations and Clinical Features of Korean Patients with Myotonia Congenita
por: Moon, In-Soo, et al.
Publicado: (2009)

Dual action of the Gα(q)-PLCβ-PI(4,5)P(2) pathway on TRPC1/4 and TRPC1/5 heterotetramers
por: Myeong, Jongyun, et al.
Publicado: (2018)

The Overlap between Fibromyalgia Syndrome and Myotonia Congenita
por: Nam, Tai-Seung, et al.
Publicado: (2015)

Thomsen and myotonia congenita.
por: Johnson, J
Publicado: (1968)

Myotonia Congenita. Thomsen's Disease
por: Variava, N. S.
Publicado: (1949)

Bodybuilding championships and myotonia congenita
por: Rohani, Mohammad, et al.
Publicado: (2016)

Myotonia Congenita (Thomsen's Disease)
por: Chand, Amir, et al.
Publicado: (1945)

Gα(i)-mediated TRPC4 activation by polycystin-1 contributes to endothelial function via STAT1 activation
por: Kwak, Misun, et al.
Publicado: (2018)

Autosomal recessive myotonia congenita in sheep
por: Moore, GA, et al.
Publicado: (1997)

The roles of G proteins in the activation of TRPC4 and TRPC5 transient receptor potential channels
por: Kim, Hana, et al.
Publicado: (2012)

The Roles of Rasd1 small G proteins and leptin in the activation of TRPC4 transient receptor potential channels
por: Wie, Jinhong, et al.
Publicado: (2015)

Evaluation of Cases with Myotonia Congenita for Cardiovascular Risk
por: Damar, Ibrahim Halil, et al.
Publicado: (2019)

The mechanism underlying transient weakness in myotonia congenita
por: Myers, Jessica H, et al.
Publicado: (2021)

Defective Gating and Proteostasis of Human ClC-1 Chloride Channel: Molecular Pathophysiology of Myotonia Congenita
por: Jeng, Chung-Jiuan, et al.
Publicado: (2020)

Chaperone activity of niflumic acid on ClC-1 chloride channel mutants causing myotonia congenita
por: Altamura, Concetta, et al.
Publicado: (2022)

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

Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children
por: Öz Tunçer, Gökçen, et al.
Publicado: (2023)

A Case of Myotonia Congenita (Thomsen's Disease) in a Child
por: Thomson, John
Publicado: (1916)

A Detailed Clinical Approach to Non-dystrophic Myotonia: A Case Report of Two Brothers With Myotonia Congenita
por: Gilitwala, Zainab, et al.
Publicado: (2023)

Identification of phospholipase C β downstream effect on transient receptor potential canonical 1/4, transient receptor potential canonical 1/5 channels
por: Ko, Juyeon, et al.
Publicado: (2019)

A Novel Mutation in CLCN1 Associated with Feline Myotonia Congenita
por: Gandolfi, Barbara, et al.
Publicado: (2014)

Case report: Coexistence of myotonia congenita and Brugada syndrome in one family
por: Cordenier, Ann, et al.
Publicado: (2022)

Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes()
por: Desaphy, Jean-François, et al.
Publicado: (2013)

Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies
por: Imbrici, Paola, et al.
Publicado: (2016)

Myotonia Congenita Mutation Enhances the Degradation of Human CLC-1 Chloride Channels
por: Lee, Ting-Ting, et al.
Publicado: (2013)

Novel Mutations in the CLCN1 Gene of Myotonia Congenita: 2 Case Reports
por: Lakraj, Amanda Amrita, et al.
Publicado: (2013)

Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis
por: Xu, Yang-Qi, et al.
Publicado: (2018)

Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients
por: Hu, Chaoping, et al.
Publicado: (2021)

HCLC-FC: A novel statistical method for phenome-wide association studies
por: Liang, Xiaoyu, et al.
Publicado: (2022)

Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review
por: Li, Yifan, et al.
Publicado: (2022)

Structure–Function Relationship and Physiological Roles of Transient Receptor Potential Canonical (TRPC) 4 and 5 Channels
por: Kim, Jinsung, et al.
Publicado: (2019)

A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.
por: Kim, Dae-Seong, et al.
Publicado: (2002)

Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita
por: Portaro, Simona, et al.
Publicado: (2015)

A Novel Mutation in the CLCN1 Gene Causing Autosomal Recessive Myotonia Congenita in Siblings
por: Chakravarty, Kamalesh, et al.
Publicado: (2021)

First Two Case Reports of Becker’s Type Myotonia Congenita in Colombia: Clinical and Genetic Features
por: Olave-Rodriguez, Jorge Andres, et al.
Publicado: (2021)

A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment
por: Woelfel, Christian, et al.
Publicado: (2022)

Negative self-regulation of transient receptor potential canonical 4 by the specific interaction with phospholipase C-δ1
por: Ko, Juyeon, et al.
Publicado: (2023)

Myotonia Congenita-Associated Mutations in Chloride Channel-1 Affect Zebrafish Body Wave Swimming Kinematics
por: Cheng, Wei, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_kvcej5ia4homfabktjpf5miopr