Results 71 to 80 of about 10,373 (189)

Novel Mechanisms Underlying Warm-up and Percussion Myotonia in Myotonia Congenita

, 2017
Patients with myotonia congenita have muscle hyperexcitability due to loss-of-function mutations in the ClC-1 chloride channel in skeletal muscle, which causes spontaneous firing of muscle action potentials (myotonia), producing muscle stiffness ...
Novak, Kevin Richard, NNovak, Kevin Richard   +1 more
core   +2 more sources

Structure of the human ClC-1 chloride channel.

PLoS Biology, 2019
ClC-1 protein channels facilitate rapid passage of chloride ions across cellular membranes, thereby orchestrating skeletal muscle excitability. Malfunction of ClC-1 is associated with myotonia congenita, a disease impairing muscle relaxation.
Kaituo Wang, Sarah Spruce Preisler, Liying Zhang, Yanxiang Cui, Julie Winkel Missel, Christina Grønberg, Kamil Gotfryd, Erik Lindahl, Magnus Andersson, Kirstine Calloe, Pascal F Egea, Dan Arne Klaerke, Michael Pusch, Per Amstrup Pedersen, Z Hong Zhou, Pontus Gourdon   +15 more
doaj   +1 more source

Novel SCN4A Variants Associated With Myalgic Myotonic Disorder or Paramyotonia

European Journal of Neurology, Volume 32, Issue 5, May 2025.
ABSTRACT Background This study aimed to determine the role of five new rare SCN4A variants suspected to cause paramyotonia or myotonic disorder. Methods Ten patients from seven families underwent clinical, neurophysiological, imaging, and muscle biopsy examinations.
Vesa Periviita, Roope Männikkö, Manu Jokela, Richa Sud, Michael G. Hanna, Bjarne Udd, Johanna Palmio   +6 more
wiley   +1 more source

Safety, Pharmacokinetics, and Pharmacodynamics of a First‐in‐Class ClC‐1 Inhibitor to Enhance Muscle Excitability: Phase I Randomized Controlled Trial

Clinical Pharmacology &Therapeutics, Volume 117, Issue 3, Page 768-778, March 2025.
NMD670 is a first‐in‐class inhibitor of skeletal muscle‐specific chloride channel ClC‐1, developed to improve muscle weakness and fatigue in neuromuscular diseases. Preclinical studies show that ClC‐1 inhibition enhances muscle excitability, improving muscle contractility and strength.
Titia Q. Ruijs, Catherine M. K. E. de Cuba, Jules A. A. C. Heuberger, John Hutchison, Jane Bold, Thomas S. Grønnebæk, Klaus G. Jensen, Eva Chin, Jorge A. Quiroz, Thomas K. Petersen, Peter Flagstad, Marieke L. de Kam, Michiel J. van Esdonk, Erica Klaassen, Robert J. Doll, Ingrid W. Koopmans, Annika A. de Goede, Linda B. S. Aulin, Thomas H. Pedersen, Geert Jan Groeneveld   +19 more
wiley   +1 more source

A case with Myotonia Congenita

Eurasian Journal of Medicine, 2019
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İhsan Yaşa, Ferruh Gezen, Vedat Bulut
doaj  

RAPSN‐Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same Position

Case Reports in Genetics, Volume 2025, Issue 1, 2025.
Biallelic pathogenic variants in RAPSN cause a form of congenital myasthenic syndrome (CMS), which is typically characterized by fatiguable muscle weakness, hypotonia, and feeding difficulties that present in the neonatal period or early childhood. RAPSN‐associated CMS can be treated with acetylcholinesterase inhibitors.
Laura Keehan, Jennefer N. Carter, Elijah Kravets, Matthew T. Wheeler, Jonathan A. Bernstein, Ricardo A. Maselli, Jacinda B. Sampson, Suha Bachir, Irfan Ahmad   +8 more
wiley   +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

Factors of Importance for Continuing Education After Primary School in Young People With Neuromuscular Diseases—Patient‐Reported Outcomes From a National Survey

International Journal of Pediatrics, Volume 2025, Issue 1, 2025.
Rationale: Young people with neuromuscular diseases (NMDs) are especially at risk of being absent from school because of various symptoms, consequences of their disease, and frequent hospital visits. Growing up with a chronic disease can entail an increased risk of poor educational outcomes. Aims: The study is aimed to investigate factors of importance
Charlotte Handberg, Kristin Allergodt, Annette Mahoney, Ann-Lisbeth Højberg, Somashekhar Marutirao Nimbalkar   +4 more
wiley   +1 more source

Myotonia congenita

, 1989
Myotonia congenita çok nadir görülen nondistrofik myopatidir. Hastalığın iletiminin otozomal recessif bir karakterde olduğunu bildirenler olduğu gibi otozomal dominant olduğunu ileri sürenler de vardır.
Kaya, Nilgün
core  

Novel chloride channel mutations leading to mild myotonia among Chinese

, 2008
We describe two Chinese families with a mild form of the myotonia congenita due to novel chloride channel (ClCN1) mutations. In one case, heterozygous I553F and H555N mutations were found.
Hunziker, W., Huifang, Shang, Sigel, Erwin, Lim, Erle C H, Ong, B.K.C., Beguin, Pascal, Baur, R., Seet, R.C.S., Baur, Roland, Eng, Chew Soh, Burgunder, Jean-Marc, Seet, Raymond C S, Eng, C.S., Ong, Benjamin K C, Lim, E.C.H., Hunziker, Walter, Beguin, P., Sigel, E., Burgunder, J.-M.   +18 more
core   +1 more source