Results 21 to 30 of about 2,733 (194)

Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita [PDF]

Human Mutation, 1999
Myotonia congenita (MC) is a genetic disease characterized by mutations in the CLCN1 gene (OMIM*118425) encoding the skeletal muscle voltage-gated chloride channel (ClC-1). Autosomal dominant and recessive forms are observed, characterized by impaired muscle relaxation after forceful contraction (myotonia), which is more pronounced after inactivity and
R, Brugnoni, S, Galantini, P, Confalonieri, M R, Balestrini, F, Cornelio, R, Mantegazza   +5 more
openaire   +4 more sources

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

Comprehensive bioinformatic analysis identifies potential therapeutic drugs for CryAB (R120G)-related cardiomyopathy [PDF]

BMC Cardiovascular Disorders
CryAB, known as Alpha-B Crystallin, has also been shown to bind and increase the unfolding force of the filamentous protein. Mutation of CryAB at R120G causes serious cardiomyopathy but lacks ideal therapeutic drugs.
Jiaqi Zheng, Yuyang Liu, Jie Wang, Jiajia Hu, Wei Qiu, Ming Su   +5 more
doaj   +2 more sources

Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene

Neuromuscular Disorders, 2012
Myotonia congenita is an inherited muscle disorder caused by mutations in the CLCN1 gene, a voltage-gated chloride channel of skeletal muscle. We have studied 48 families with myotonia, 32 out of them carrying mutations in CLCN1 gene and eight carry mutations in SCN4A gene.
María J, Mazón, Francisco, Barros, Pilar, De la Peña, Juan F, Quesada, Adela, Escudero, Ana M, Cobo, Samuel I, Pascual-Pascual, Eduardo, Gutiérrez-Rivas, Encarna, Guillén, Javier, Arpa, Pilar, Eraso, Francisco, Portillo, Jesús, Molano   +12 more
exaly   +6 more sources

RYR 1 Gene Mutation in Motor Neuron Disease: A 10-Year Case Observation. [PDF]

Case Rep Neurol Med
Motor neuron diseases (MND) are a group of rare, often severe, and life‐limiting progressive neurological disorders that primarily affect motor neurons, resulting in muscle weakness and loss of essential muscle functions. Genetic defects play a significant role in MND, contributing to their pathogenesis and progression.
Posa A, Kornhuber M.
europepmc   +2 more sources

Variants in CLCN1 and PDE4C Associated with Muscle Hypertrophy, Dysphagia, and Gait Abnormalities in Young French Bulldogs [PDF]

Animals
(1) Background: Muscle hypertrophy, swallowing disorders, and gait abnormalities are clinical signs common to many muscle diseases, including muscular dystrophies, non-dystrophic myotonias, genetic myopathies associated with deficiency of myostatin, and ...
G. Diane Shelton, James R. Mickelson, Steven G. Friedenberg, Jonah N. Cullen, Karina Graham, Missy C. Carpentier, Ling T. Guo, Katie M. Minor   +7 more
doaj   +2 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

Clinical and genetic characteristics of myotonia congenita in Chinese population [PDF]

Channels
Myotonia congenita (MC) is a rare hereditary muscle disease caused by variants in the CLCN1 gene. Currently, the correlation of phenotype-genotype is still uncertain between dominant-type Thomsen (TMC) and recessive-type Becker (BMC).
Yuting He, Yusen Qiu, Ying Xiong, Yu Shen, Kaiyan Jiang, Hancun Yi, Pengcheng Huang, Yu Zhu, Min Zhu, Meihong Zhou, Daojun Hong, Dandan Tan   +11 more
doaj   +2 more sources

Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people

Medicine, 2022
Background: This study aimed to characterize the genetic, pathological, and clinical alterations of 17 patients in China presenting with nondystrophic myotonia (NDM) and to analyze the relationship between genotype and clinical phenotype.
Yan-Xin Meng, Mei Yu, Chunmiao Liu, Haijuan Zhang, Yuxiu Yang, Jing Zhang   +5 more
openaire   +2 more sources

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