Results 11 to 20 of about 3,195 (191)

A novel mutation in CLCN1 associated with feline myotonia congenita. [PDF]

PLoS ONE, 2014
Myotonia congenita (MC) is a skeletal muscle channelopathy characterized by inability of the muscle to relax following voluntary contraction. Worldwide population prevalence in humans is 1:100,000.
Barbara Gandolfi, Rob J Daniel, Dennis P O'Brien, Ling T Guo, Melanie D Youngs, Stacey B Leach, Boyd R Jones, G Diane Shelton, Leslie A Lyons   +8 more
doaj   +5 more sources

Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients [PDF]

Frontiers in Pediatrics, 2021
Background:CLCN1-related myotonia congenita (MC) is one of the most common forms of non-dystrophic myotonia, in which muscle relaxation is delayed after voluntary or evoked contraction. However, there is limited data of clinical and molecular spectrum of
Chaoping Hu, Yiyun Shi, Lei Zhao, Shuizhen Zhou, Xihua Li   +4 more
doaj   +3 more sources

Myotonia congenita in a Labrador Retriever with truncated CLCN1 [PDF]

Neuromuscular Disorders, 2018
An eight week old Labrador Retriever puppy presented with stiff-legged robotic gait. Abnormal gait was most evident after rest and improved with prolonged activity.
Fischer, Andrea, Hytönen, Marjo K., Lohi, Hannes, Matiasek, Kaspar, Quitt, Pia R., Rosati, Marco   +5 more
core   +4 more sources

High-dose flecainide for symptomatic relief in paramyotonia congenita/severe neonatal episodic laryngospasm due to SCN4A G1306E: a case report [PDF]

Journal of Medical Case Reports
Background Severe neonatal episodic laryngospasm has been previously reported in multiple patients with the heterozygous pathogenic variant G1306E in SCN4A.
Vanessa Ogueri, Jessica Chong, Melissa Fleming, Kara Simpson, Elizabeth Sherwin, Diana Bharucha-Goebel, Christopher Spurney   +6 more
doaj   +2 more sources

Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia [PDF]

Frontiers in Neurology, 2020
Objective: Myotonia congenita (MC) is a rare muscle disease characterized by sarcolemma over-excitability inducing skeletal muscle stiffness. It can be inherited either as an autosomal dominant (Thomsen's disease) or an autosomal recessive (Becker's ...
Concetta Altamura, Evgeniya A. Ivanova, Paola Imbrici, Elena Conte, Giulia Maria Camerino, Elena L. Dadali, Alexander V. Polyakov, Sergei Aleksandrovich Kurbatov, Francesco Girolamo, Maria Rosaria Carratù, Jean-François Desaphy   +10 more
doaj   +4 more sources

Clinical and Genetic Reassessment in Patients With Clinically Diagnosed Hereditary Polyneuropathy. [PDF]

Eur J Neurol
Reassessment, including genetic testing, was performed in patients with a clinical diagnosis of hereditary polyneuropathy lacking genetic confirmation. A genetic or non‐genetic aetiology was identified in 44% of the patients. ABSTRACT Background Hereditary polyneuropathy is a disabling condition with a genetic aetiology.
Kodal LS, Duno M, Dysgaard T.
europepmc   +2 more sources

Functional and Structural Characterization of ClC-1 and Na_v1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients

Cells, 2021
Non-dystrophic myotonias have been linked to loss-of-function mutations in the ClC-1 chloride channel or gain-of-function mutations in the Nav1.4 sodium channel. Here, we describe a family with members diagnosed with Thomsen’s disease. One novel mutation
Oscar Brenes, Raffaella Barbieri, Melissa Vásquez, Rebeca Vindas-Smith, Jeffrey Roig, Adarli Romero, Gerardo del Valle, Luis Bermúdez-Guzmán, Sara Bertelli, Michael Pusch, Fernando Morales   +10 more
doaj   +1 more source

Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family

Frontiers in Genetics, 2023
Myotonia congenita (MC) is a rare neuromuscular disease caused by mutations within the CLCN1 gene encoding skeletal muscle chloride channels. MC is characterized by delayed muscle relaxation during contraction, resulting in muscle stiffness.
Nurul Huda Musa, Nurul Huda Musa, Karuppiah Thilakavathy, Karuppiah Thilakavathy, Nur Afiqah Mohamad, Nur Afiqah Mohamad, Marina L. Kennerson, Marina L. Kennerson, Liyana Najwa Inche Mat, Wei Chao Loh, Anna Misyail Abdul Rashid, Janudin Baharin, Azliza Ibrahim, Wan Aliaa Wan Sulaiman, Fan Kee Hoo, Hamidon Basri, Abdul Hanif Khan Yusof Khan   +16 more
doaj   +1 more source

A novel mutation in the CLCN1 gene causing autosomal recessive myotonia congenita in siblings

Annals of Indian Academy of Neurology, 2021
Kamalesh Chakravarty, Vivek Lal, Sucharita Ray   +2 more
doaj   +3 more sources

Myotonia congenita: novel mutations in CLCN1 gene [PDF]

Channels, 2015
Myotonia congenita belongs to the group of non-dystrophic myotonia caused by mutations of CLCN1gene, which encodes human skeletal muscle chloride channel 1. It can be inherited either in autosomal dominant (Thomsen disease) or recessive (Becker disease) forms.
Xiao-Li, Liu, Xiao-Jun, Huang, Jun-Yi, Shen, Hai-Yan, Zhou, Xing-Hua, Luan, Tian, Wang, Sheng-Di, Chen, Ying, Wang, Hui-Dong, Tang, Li, Cao   +9 more
openaire   +2 more sources