Results 21 to 30 of about 2,557 (149)

Myo-Guide: A Machine Learning-Based Web Application for Neuromuscular Disease Diagnosis With MRI. [PDF]

J Cachexia Sarcopenia Muscle
ABSTRACT Background Neuromuscular diseases (NMDs) are rare disorders characterized by progressive muscle fibre loss, leading to replacement by fibrotic and fatty tissue, muscle weakness and disability. Early diagnosis is critical for therapeutic decisions, care planning and genetic counselling.
Verdu-Diaz J, Bolano-Díaz C, Gonzalez-Chamorro A, Fitzsimmons S, Warman-Chardon J, Kocak GS, Mucida-Alvim D, Smith IC, Vissing J, Poulsen NS, Luo S, Domínguez-González C, Bermejo-Guerrero L, Gomez-Andres D, Sotoca J, Pichiecchio A, Nicolosi S, Monforte M, Brogna C, Mercuri E, Bevilacqua JA, Díaz-Jara J, Pizarro-Galleguillos B, Krkoska P, Alonso-Pérez J, Olivé M, Niks EH, Kan HE, Lilleker J, Roberts M, Buchignani B, Shin J, Esselin F, Le Bars E, Childs AM, Malfatti E, Sarkozy A, Perry L, Sudhakar S, Zanoteli E, Di Pace FT, Matthews E, Attarian S, Bendahan D, Garibaldi M, Fionda L, Alonso-Jiménez A, Carlier R, Okhovat AA, Nafissi S, Nalini A, Vengalil S, Hollingsworth K, Marini-Bettolo C, Straub V, Tasca G, Bacardit J, Díaz-Manera J, Myo‐Guide Consortium.   +58 more
europepmc   +2 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

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

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

Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review

Channels, 2022
Myotonia congenita (MC) is a rare genetic disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1), encoding the voltage-gated chloride channel ClC-1 in skeletal muscle.
Yifan Li, Mao Li, Zhenfu Wang, Fei Yang, Hongfen Wang, Xiujuan Bai, Bo Sun, Siyu Chen, Xusheng Huang   +8 more
doaj   +1 more source

A Cell-Based Double Reporter Gene Splicing Assay for Therapeutic Screening in Myotonic Dystrophy

The EuroBiotech Journal, 2023
The study has developed a model splicing construct assay system based on splicing misregulation, one of the major molecular features associated with myotonic dystrophy.
Udosen Inyang U., Granados Javier T., Brook John David   +2 more
doaj   +1 more source

Case report: Coexistence of myotonia congenita and Brugada syndrome in one family

Frontiers in Neurology, 2022
Myotonia congenita is a rare neuromuscular disorder caused by CLCN1 mutations resulting in delayed muscle relaxation. Extramuscular manifestations are not considered to be present in chloride skeletal channelopathies, although recently some cardiac ...
Ann Cordenier, Anja Flamez, Thomy de Ravel, Alexander Gheldof, Luigi Pannone, Carlo De Asmundis, Gudrun Pappaert, Véronique Bissay   +7 more
doaj   +1 more source

Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders

Frontiers in Neurology, 2020
Introduction: Inherited myotonic disorders are genetically heterogeneous and associated with overlapping clinical features of muscle stiffness, weakness, and pain. Data on genotype-phenotype correlations are limited.
Alayne P. Meyer, Jennifer Roggenbuck, Samantha LoRusso, John Kissel, Rachel M. Smith, David Kline, W. David Arnold   +6 more
doaj   +1 more source

Hereditary myotonia in cats associated with a new homozygous missense variant p.Ala331Pro in the muscle chloride channel ClC‐1

Journal of Veterinary Internal Medicine, 2023
Three‐related cats were evaluated for a history of short‐strided gait and temporary recumbency after startle. Neurological examination, electromyography (EMG), muscle biopsies, and a chloride voltage‐gated channel 1 (CLCN1) molecular study were performed.
Sílvia Corrêa, Roberta Martins Basso, Fabricio Moreira Cerri, José Paes deOliveira‐Filho, João Pessoa Araújo Jr, Sandra Regina Torelli, Livia Pinheiro Chagas da Cunha Salán, Maurício Oliveira Salán, Isabella Zeque Macedo, Alexandre Secorun Borges   +9 more
doaj   +1 more source