Results 51 to 60 of about 6,556 (183)

Myotonia congenita mutation enhances the degradation of human CLC-1 chloride channels. [PDF]

PLoS ONE, 2013
Myotonia congenita is a hereditary muscle disorder caused by mutations in the human voltage-gated chloride (Cl(-)) channel CLC-1. Myotonia congenita can be inherited in an autosomal recessive (Becker type) or dominant (Thomsen type) fashion.
Ting-Ting Lee, Xiao-Dong Zhang, Chao-Chin Chuang, Jing-Jer Chen, Yi-An Chen, Shu-Ching Chen, Tsung-Yu Chen, Chih-Yung Tang   +7 more
doaj   +1 more source

Technologies for engineering repetitive DNA

Quantitative Biology, Volume 14, Issue 3, September 2026.
Abstract Repetitive DNA, a fundamental architectural element of genomes, is widespread across organisms and comprises about 54% of the human genome. With advances in long‐read sequencing and bioinformatics approaches, highly repetitive sequences can now be characterized in depth.
Shuting Ma, Yali Cui, Yi Wu
wiley   +1 more source

Genetically Confirmed Schwartz–Jampel Syndrome: An Ultra-Rare Case of Congenital Myotonia with Osteochondrodysplasia from India

International Journal of Medical Students
Background: Schwartz–Jampel syndrome is a rare autosomal recessive disorder caused by mutations in the HSPG2 gene, leading to perlecan deficiency. Perlecan is a heparan sulfate proteoglycan critical for cartilage integrity, basement membrane stability ...
Nandita Jali, Suvarna Magar, Tanya Trikha, Varsha Vaidya, Viranchi Vaidya   +4 more
doaj   +1 more source

Possible role of SCN4A skeletal muscle mutation in apnea during seizure

Epilepsia Open, 2019
SCN4A gene mutations cause a number of neuromuscular phenotypes including myotonia. A subset of infants with myotonia‐causing mutations experience severe life‐threatening episodic laryngospasm with apnea.
Dilşad Türkdoğan, Emma Matthews, Sunay Usluer, Aslı Gündoğdu, Kayıhan Uluç, Roope Mannikko, Michael G. Hanna, Sanjay M. Sisodiya, Hande S. Çağlayan   +8 more
doaj   +1 more source

Anesthetic management of a patient with sodium-channel myotonia: a case report

JA Clinical Reports, 2019
Background Sodium-channel myotonia (SCM) is a nondystrophic myotonia, characterized by pure myotonia without muscle weakness or paramyotonia. The prevalence of skeletal muscle channelopathies is approximately 1 in 100,000, and the prevalence of SCM is ...
Naohisa Matsumoto, Rei Nishimoto, Yoshikazu Matsuoka, Yoshimasa Takeda, Hiroshi Morimatsu   +4 more
doaj   +1 more source

Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in SCN4A

Frontiers in Neurology, 2020
The phenotypic spectrum associated with the skeletal muscle voltage-gated sodium channel gene (SCN4A) has expanded with advancements in genetic testing.
Nathaniel Elia, Nathaniel Elia, Trystan Nault, Hugh J. McMillan, Gail E. Graham, Lijia Huang, Stephen C. Cannon   +6 more
doaj   +1 more source

Myotonia congenita-associated mutations in chloride channel-1 affect zebrafish body wave swimming kinematics. [PDF]

PLoS ONE, 2014
Myotonia congenita is a human muscle disorder caused by mutations in CLCN1, which encodes human chloride channel 1 (CLCN1). Zebrafish is becoming an increasingly useful model for human diseases, including muscle disorders.
Wei Cheng, Jing Tian, Jean-Marc Burgunder, Walter Hunziker, How-Lung Eng   +4 more
doaj   +1 more source

Pain Sensitivity Profiles Are Associated With Muscle Biomechanics and Clinical Pain in Persons With Symptomatic Knee Osteoarthritis

ACR Open Rheumatology, Volume 8, Issue 8, August 2026.
Objective There is growing evidence that knee osteoarthritis (OA), a significant source of chronic pain, is only partly explained by joint pathophysiology, varies significantly between individuals and may be partly driven by changes in periarticular tissues.
Alisa J. Johnson, Bryce C. Murillo, Yenisel Cruz‐Almeida   +2 more
wiley   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, Volume 46, Issue 9, Page 1374-1384, August 2026.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

A couple of the first cousins born with hypotonia and maternal polyhydramnios

Clinical Case Reports
Key Clinical Message Congenital myotonic dystrophy should be considered in hypotonic infants with polyhydramniotic mothers with a positive history of myotonia.
Mousa Ahmadpour‐kacho, Yadollah Zahed Pasha, Samira Pournajaf   +2 more
doaj   +1 more source