Results 41 to 50 of about 2,226 (158)

Mutation Analysis of MR-1, SLC2A1, and CLCN1 in 28 PRRT2-negative Paroxysmal Kinesigenic Dyskinesia Patients

Chinese Medical Journal, 2016
Background: Paroxysmal kinesigenic dyskinesia (PKD) is the most common subtype of paroxysmal dyskinesias and is caused by mutations in PRRT2 gene. The majority of familial PKD was identified to harbor PRRT2 mutations.
Hong-Xia Wang, Hong-Fu Li, Gong-Lu Liu, Xiao-Dan Wen, Zhi-Ying Wu   +4 more
doaj   +1 more source

A 3-mRNA-based prognostic signature of survival in oral squamous cell carcinoma [PDF]

PeerJ, 2019
Background Oral squamous cell carcinoma (OSCC) is the most common type of head and neck squamous cell carcinoma with an unsatisfactory prognosis. The aim of this study was to identify potential prognostic mRNA biomarkers of OSCC based on analysis of The ...
Ruoyan Cao, Qiqi Wu, Qiulan Li, Mianfeng Yao, Hongbo Zhou   +4 more
doaj   +2 more sources

A complex CLCN1 variant associated with hereditary myotonia in a mixed-breed dog

Journal of Veterinary Diagnostic Investigation, 2023
Hereditary myotonia (HM) is characterized by delayed muscle relaxation after contraction as a result of a mutation in the CLCN1 gene. We describe here a complex CLCN1 variant in a mixed-breed dog with clinical and electromyographic signs of HM. Blood samples from the myotonic dog, as well as from his male littermate and parents, were analyzed via ...
Natielly D. Chimenes, Silvana M. Caramalac, Simone M. Caramalac, Thiago D. Fernandes, Roberta M. Basso, Fabrício M. Cerri, José P. Oliveira-Filho, Alexandre S. Borges, Mariana I. P. Palumbo   +8 more
openaire   +3 more sources

A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs [PDF]

Scientific Reports, 2019
AbstractMutations in the CLCN1 gene are the primary cause of non-dystrophic Hereditary Myotonia in several animal species. However, there are no reports of Hereditary Myotonia in pigs to date. Therefore, the objective of the present study was to characterize the clinical and molecular findings of Hereditary Myotonia in an inbred pedigree. The clinical,
C. E. T. Araújo, C. M. C. Oliveira, J. D. Barbosa, J. P. Oliveira-Filho, L. A. L. Resende, P. R. Badial, J. P. Araujo-Junior, M. E. McCue, A. S. Borges   +8 more
openaire   +3 more sources

Functional analysis of the F337C mutation in the CLCN1 gene associated with dominant myotonia congenita reveals an alteration of the macroscopic conductance and voltage dependence

Molecular Genetics & Genomic Medicine, 2021
Background Myotonia congenita (MC) is a common channelopathy affecting skeletal muscle and which is due to pathogenic variants within the CLCN1 gene. Various alterations in the function of the channel have been reported and we here illustrate a novel one.
Kevin Jehasse, Kathleen Jacquerie, Alice de Froidmont, Camille Lemoine, Thierry Grisar, Katrien Stouffs, Bernard Lakaye, Vincent Seutin   +7 more
doaj   +1 more source

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

Frontiers in Neurology, 2022
IntroductionNon-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.MethodsWe reviewed ...
Quanquan Wang, Quanquan Wang, Zhe Zhao, Hongrui Shen, Qi Bing, Nan Li, Jing Hu   +6 more
doaj   +1 more source

Miotonías no distróficas: aspectos clínicos y terapéuticos

Kranion, 2022
Las miotonías no distróficas son un grupo heterogéneo de canalopatías del músculo esquelético causadas por mutaciones en el gen de los canales de cloro (CLCN1) o de sodio (SCNA4) localizados en la membrana muscular.
Jorge García García
doaj   +1 more source

Moroccan consanguineous family with Becker myotonia and review

Annals of Indian Academy of Neurology, 2011
Myotonia congenita is a genetic muscle disorder characterized by clinical and electrical myotonia, muscle hypertrophy, and stiffness. It is inherited as either autosomal-dominant or -recessive, known as Thomsen and Becker diseases, respectively.
Ilham Ratbi, Siham Chafai Elalaoui, Adela Escudero, Yamina Kriouile, Jesus Molano, Abdelaziz Sefiani   +5 more
doaj   +1 more source

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, Volume 110, Issue 1, Page 15-28, July 2026.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source

Expanding African contributions to ClinVar through genetic counselor‐led variant curation

Journal of Genetic Counseling, Volume 35, Issue 3, June 2026.
Abstract Global variant databases such as ClinVar are vital in linking genetic variation to clinical significance and enabling shared interpretation across laboratories. However, African genetic variants remain underrepresented, comprising under 2% of global ClinVar submissions.
Nabeelah Peerbhai, Nolene Ramsunder, Tarin Europa, Jeannine Heckmann, Melissa Nel   +4 more
wiley   +1 more source