Results 11 to 20 of about 12,609 (254)

Defective Gating and Proteostasis of Human ClC-1 Chloride Channel: Molecular Pathophysiology of Myotonia Congenita

Frontiers in Neurology, 2020
The voltage-dependent ClC-1 chloride channel, whose open probability increases with membrane potential depolarization, belongs to the superfamily of CLC channels/transporters. ClC-1 is almost exclusively expressed in skeletal muscles and is essential for
Chung-Jiuan Jeng, Chung-Jiuan Jeng, Ssu-Ju Fu, Ssu-Ju Fu, Chia-Ying You, Yi-Jheng Peng, Cheng-Tsung Hsiao, Cheng-Tsung Hsiao, Tsung-Yu Chen, Chih-Yung Tang, Chih-Yung Tang   +10 more
doaj   +2 more sources

Paxilline Prevents the Onset of Myotonic Stiffness in Pharmacologically Induced Myotonia: A Preclinical Investigation

Frontiers in Physiology, 2020
Reduced Cl− conductance causes inhibited muscle relaxation after forceful voluntary contraction due to muscle membrane hyperexcitability. This represents the pathomechanism of myotonia congenita.
Kerstin Hoppe, Kerstin Hoppe, Tina Sartorius, Sunisa Chaiklieng, Sunisa Chaiklieng, Georg Wietzorrek, Peter Ruth, Karin Jurkat-Rott, Scott Wearing, Scott Wearing, Frank Lehmann-Horn, Werner Klingler, Werner Klingler, Werner Klingler, Werner Klingler   +14 more
doaj   +2 more sources

The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia [PDF]

Frontiers in Neurology, 2022
Introduction Non-dystrophic myotonias (NDMs) are skeletal muscle ion channelopathies caused by CLCN1 or SCN4A mutations. This study aimed to describe the clinical, myopathological, and genetic analysis of NDM in a large Chinese cohort.
Quanquan Wang, Zhe Zhao, Hongrui Shen, Bing Qi, Nan Li, Jing Hu   +5 more
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Case report: A CLCN1 complex variant mutation in exon 15 in a mixed-breed dog with hereditary myotonia [PDF]

Frontiers in Veterinary Science
At 4 months of age, a male dog was presented with a complaint of a stiff gait following a startle response. Neurological examination revealed no deficits, but clinical myotonia was easily induced upon requesting the patient to jump.
Gabriel Utida Eguchi, Mariana Isa Poci Palumbo, Fabrício Moreira Cerri, Roberta Martins Basso, José Paes de Oliveira-Filho, Silvana Marques Caramalac, Alexandre Secorun Borges   +6 more
doaj   +2 more sources

A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene [PDF]

Journal of Human Genetics, 2013
Raffaella Brugnoni, Paola Imbrici, Mauro Pessia   +2 more
exaly   +2 more sources

TRPV4 Antagonism Prevents Mechanically Induced Myotonia

Annals of Neurology, 2020
Christopher L. Dupont, Kevin R. Novak, Kirsten Denman, Jessica H Myers, Jeremy M. Sullivan, Phillip V. Walker, Nicklaus L. Brown, David R. Ladle, Laurent Bogdanik, Cathleen Lutz, Andrew A. Voss, Charlotte J. Sumner, Mark M. Rich   +12 more
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Myotonia Congenita: Case Report of Becker's Variant

Boğaziçi Tıp Dergisi, 2022
Myotonia is a finding caused by muscle hyperexcitability and occurs as a result of delayed relaxation. The two disease groups in which myotonia is seen are myotonic dystrophy from muscular dystrophies and non-dystrophic myotonias from muscle ion channel ...
Okan Akşahin, Mehmet Güney Şenol
doaj   +1 more source

Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation [PDF]

Neurology, 2016
Objective: We performed a clinical, functional, and pharmacologic characterization of the novel p.P1158L Nav1.4 mutation identified in a young girl presenting a severe myotonic phenotype.
Jean‐François Desaphy, Roberta Carbonara, Adele D’Amico, Anna Modoni, Julien Roussel, Paola Imbrici, Serena Pagliarani, Sabrina Lucchiari, Mauro Lo Monaco, Diana Conte Camerino   +9 more
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Myotonia and myotonic discharges of dystrophic myotonia type 1 at the first decade onset: a literature review and data of the case series

Нервно-мышечные болезни, 2022
Background. Dystrophic myotonia type 1 (DM1) is the most common muscular dystrophy in patients of any age. Myotonia “delayed relaxation of muscle” is the leading symptom in DM1 and can occur at any time after onset disease.
S. A. Kurbatov, V. M. Kenis, M. V. Savina, I. S. Kleimenova, N. S. Priymak, Yu. V. Kryukov, A. A. Kokorina, N. V. Ryadninskaya, I. A. Kuznetsova, O. A. Shchagina, A. V. Poliakov   +10 more
doaj   +1 more source

Becker congenital myotonia in black African with molecular findings

Egyptian Journal of Medical Human Genetics, 2022
Background Congenital myotonia is a congenital disorder that affects skeletal muscles with myotonia. Affected muscles show stiffness and pain sometimes. The two major types of myotonia congenita are known as Thomsen disease and Becker disease.
Simon Azonbakin, Diane Adovoekpe, Marius Adjagba, Jules Alao, Gratien Sagbo, Constant Adjien, Anatole Laleye   +6 more
doaj   +1 more source