Results 71 to 80 of about 3,329 (204)

Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients

Frontiers in Neurology, 2020
Background: Four main clinical phenotypes have been traditionally described in patients mutated in SCN4A, including sodium-channel myotonia (SCM), paramyotonia congenita (PMC), Hypokaliemic type II (HypoPP2), and Hyperkaliemic/Normokaliemic periodic ...
Lorenzo Maggi, Raffaella Brugnoni, Eleonora Canioni, Paola Tonin, Veronica Saletti, Patrizia Sola, Stefano Cotti Piccinelli, Lara Colleoni, Paola Ferrigno, Antonella Pini, Riccardo Masson, Fiore Manganelli, Daniele Lietti, Liliana Vercelli, Giulia Ricci, Claudio Bruno, Giorgio Tasca, Antonio Pizzuti, Antonio Pizzuti, Alessandro Padovani, Carlo Fusco, Elena Pegoraro, Lucia Ruggiero, Sabrina Ravaglia, Gabriele Siciliano, Lucia Morandi, Raffaele Dubbioso, Tiziana Mongini, Massimiliano Filosto, Irene Tramacere, Renato Mantegazza, Pia Bernasconi   +31 more
doaj   +1 more source

Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS [PDF]

, 2015
published_or_final_versio
Chen, WT, Chou, CH, Feng, Y, Hsu, YY, Huang, HD, Jong, YJ, Lam, CW, Liang, WC, Lin, TS, Tian, X, Wang, J, Wong, LJ, Zhang, VW   +12 more
core   +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

Anesthesia Experience in a Patient with Myotonia Congenita

Bagcilar Medical Bulletin, 2019
Myotonia congenita (MC) was first described as a skeletal muscle disorder by Thomsen in 1876. As a result of the mutation of the chloride channel gene (CLCN1), which is on the 17th chromosome, patients suffer from muscle contractility and fatigue ...
Yeşim Cokay Abut, Serkan Şimşek, Seher Köse, Şenay Kırgezen, Kübra Bolat, Veysel Erden   +5 more
doaj   +1 more source

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

Phosphorylation and protonation of neighboring MiRP2 sites: function and pathophysiology of MiRP2-Kv3.4 potassium channels in periodic paralysis. [PDF]

, 2006
MinK-related peptide 2 (MiRP2) and Kv3.4 subunits assemble in skeletal muscle to create subthreshold, voltage-gated potassium channels. MiRP2 acts on Kv3.4 to shift the voltage dependence of activation, speed recovery from inactivation, suppress ...
Abbott, Geoffrey W, Butler, Margaret H, Goldstein, Steve AN   +2 more
core   +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

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

The interplay between epitranscriptomic RNA modifications and neurodegenerative disorders: Mechanistic insights and potential therapeutic strategies

Ibrain, Volume 10, Issue 4, Page 395-426, Winter 2024.
This review elucidates the pivotal role of RNA modifications in the etiology and progression of neurodegenerative disorders. RNA modification proteins (RMPs) including FTO, HNRNPA2B1, ADAR1/2, METTL3/14, NSUN2, and ALKBH5 are implicated in initiating dysregulated RNA modifications, thereby disrupting RNA metabolism.
Muhammad Abu Talha Safdar Hashmi, Hooriya Fatima, Sadia Ahmad, Amna Rehman, Fiza Safdar   +4 more
wiley   +1 more source

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

, 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   +1 more source