Results 71 to 80 of about 2,226 (158)

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   +1 more source

Clinical characterization of Collagen XII‐related disease caused by biallelic COL12A1 variants

Annals of Clinical and Translational Neurology, Volume 12, Issue 3, Page 602-614, March 2025.
Abstract Objective While there have been several reports of patients with dominantly acting COL12A1 variants, few cases of the more severe recessive Collagen XII‐related disorders have previously been documented. Methods We present detailed clinical, immunocytochemical, and imaging data on eight additional patients from seven families with biallelic ...
Riley M. McCarty, Dimah Saade, Pinki Munot, Chamindra G. Laverty, Hailey Pinz, Yaqun Zou, Meghan McAnally, Pomi Yun, Cuixia Tian, Ying Hu, Lucy Feng, Rahul Phadke, Sophia Ceulemans, Pilar Magoulas, Andrew J. Skalsky, Jennifer R. Friedman, Stephen R. Braddock, Sarah B. Neuhaus, Denise M. Malicki, Matthew N. Bainbridge, Shareef Nahas, David P. Dimmock, Stephen F. Kingsmore, Timothy E. Lotze, A. Reghan Foley, Francesco Muntoni, Volker Straub, Sandra Donkervoort, Carsten G. Bönnemann   +28 more
wiley   +1 more source

New Horizons in Myotonic Dystrophy Type 1: Cellular Senescence as a Therapeutic Target

BioEssays, Volume 47, Issue 3, March 2025.
Cellular senescence accumulates in the skeletal muscle of patients with myotonic dystrophy Type 1, leading to the production of senescence‐associated secretory phenotype (SASP) factors that have detrimental effects. Targeting these senescent cells with senotherapeutics could restore muscle homeostasis and slow disease progression.
Cécilia Légaré, J. Andrew Berglund, Elise Duchesne, Nicolas A. Dumont   +3 more
wiley   +1 more source

Treatment of Becker myotonia congenita with lamotrigine: one case report and review of literatures

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Objective To report the efficacy and safety of lamotrigine in the treatment of one case of Becker myotonia congenita. Methods and Results A 17-year-old male had muscle stiffness in the limbs as the first symptom, which could be alleviated after repeated ...
Jie ZHONG, Jin-fu LIN, Cheng ZHANG, Xin-jing ZHONG, Xue-ling CHEN, Jing LI, Yu-ling ZHU   +6 more
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Фенотип-генотип корелации при пациенти с вродена миотония тип Бекер

Българска неврология, 2023
Вродената миотония e генетично невромускулно заболяване, което засяга скелетната мускулатура. Клинично се характеризира с нарушена релаксация след силна мускулна контракция (миотония). Дължи се на мутации в CLCN1-гена, кодиращ хлорни канали в мускулните
Stanislava Blagoeva, Teodora Chamova, Ivailo Tournev   +2 more
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Хлорни каналопатии

Българска неврология, 2023
Вродената миотония e заболяване, клинично характеризиращо се с нарушена релаксация след силна мускулна контракция (миотония). Дължи се на мутации в CLCN1-гена, кодиращ хлорни канали в мускулните клетки (7q35).
Stanislava Blagoeva, Teodora Chamova, Ivailo Tournev   +2 more
doaj  

Case Report: Three pathogenic molecular findings in a patient with myotonia congenita, pseudohypoparathyroidism, and a glaucoma-suspect phenotype

Frontiers in Endocrinology
BackgroundThe presence of multiple rare Mendelian disorders in a single patient may mask clinical recognition when phenotypes overlap. We describe a patient with longstanding myotonia congenita due to a CLCN1 variant in whom an incidental discovery of ...
Noha N. Mukhtar, Deema Alturki, Allianah Benito, Balgees Alghamdi, Ali Alshehri, Ali S. Alzahrani, Ali S. Alzahrani   +6 more
doaj   +1 more source

[A pedigree of myotonia congenita with a novel mutation p.F343C of the CLCN1 gene].

Rinsho shinkeigaku = Clinical neurology
A Japanese woman experienced slowness of movement in her early teens and difficulty in opening her hands during pregnancy. On admission to our hospital at 42 years of age, she showed grip myotonia with warm-up phenomenon. However, she had neither muscle weakness, muscle atrophy, cold-induced symptomatic worsening nor episodes of transient weakness of ...
Nakamura, Yoshitsugu, Sato, Hidenori, Kakiuchi, Kensuke, Miyano, Yuki, Hosokawa, Takafumi, Arawaka, Shigeki   +5 more
openaire   +2 more sources

A Novel Mutation of the CLCN1 Gene Associated with Myotonia Hereditaria in an Australian Cattle Dog

Journal of Veterinary Internal Medicine, 2007
Abstract Background:Heritable myotonia is a genetic muscle disorder characterized by slow relaxation of skeletal muscles. The main clinical signs are skeletal muscle stiffness, especially after vigorous contraction, and muscle hypertrophy. Muscle stiffness may be enhanced by inactivity, and often is relieved by exercise.
Daniel F, Finnigan, W J Brad, Hanna, Roberto, Poma, Andrew J, Bendall   +3 more
openaire   +2 more sources

First Two Case Reports of Becker’s Type Myotonia Congenita in Colombia: Clinical and Genetic Features

The Application of Clinical Genetics, 2021
Jorge Andres Olave-Rodriguez,1 Francisco Javier Bonilla-Escobar,2– 4 Estephania Candelo,5,6 Lisa Ximena Rodriguez-Rojas1,7 1Universidad Icesi, Faculty of Health Sciences, Cali, Colombia; 2Somos Ciencia al Servicio de la Comunidad, Fundación SCISCO ...
Olave-Rodriguez JA, Bonilla-Escobar FJ, Candelo E, Rodriguez-Rojas LX   +3 more
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