Results 101 to 110 of about 2,738 (205)

Reduced K+ build‐up in t‐tubules contributes to resistance of the diaphragm to myotonia

The Journal of Physiology, Volume 602, Issue 22, Page 6171-6188, 15 November 2024.
Abstract figure legend Patients with myotonia congenita suffer from slowed muscle relaxation caused by hyperexcitability. The diaphragm is only mildly affected. Studies performed in two mouse models of myotonia congenita revealed that the reason the diaphragm is resistant to myotonia is reduced build‐up of K+ in small invaginations of muscle membrane ...
Jessica H. Myers, Kirsten Denman, Chris Dupont, Brent D. Foy, Mark M. Rich   +4 more
wiley   +1 more source

Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita [PDF]

, 2015
Myotonia congenita (MC) is an inherited muscle disease characterized by impaired muscle relaxation after contraction, resulting in muscle stiffness. Both recessive (Becker's disease) or dominant (Thomsen's disease) MC are caused by mutations in the CLCN1
ALTAMURA, CONCETTA, CAMERINO, GIULIA MARIA, CONTE, Diana, DESAPHY, Jean Francois, IMBRICI, Paola, Licata, Norma, Musumeci, Olimpia, Portaro, Simona, Rodolico, Carmelo, Toscano, Antonio   +9 more
core   +1 more source

Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier

Muscle &Nerve, Volume 70, Issue 2, Page 240-247, August 2024.
Abstract Introduction/Aims Myotonia congenita (MC) is the most common hereditary channelopathy in humans. Characterized by muscle stiffness, MC may be transmitted as either an autosomal dominant (Thomsen) or a recessive (Becker) disorder. MC is caused by variants in the voltage‐gated chloride channel 1 (CLCN1) gene, important for the normal ...
Nikolaos M. Marinakis, Maria Svingou, Giorgos‐Konstantinos Papadimas, Constantinos Papadopoulos, Elisabeth Chroni, Roser Pons, Evangelos Pavlou, Ioannis Sarmas, Konstantina Kosma, Paraskevi Apostolou, Christalena Sofocleous, Joanne Traeger‐Synodinos, Kyriaki Kekou   +12 more
wiley   +1 more source

Characterization of ClC‐1 chloride channels in zebrafish: a new model to study myotonia

The Journal of Physiology, Volume 602, Issue 16, Page 3975-3994, 15 August 2024.
Abstract figure legend Zebrafish clc‐1a and clc‐1b orthologues were identified and cloned. mRNA and protein expression were detected mostly in muscle. Functional properties were studied in Xenopus oocytes, and they showed similitudes, but also some differences compared with the human counterpart. A crispant model was generated and studied analysing its
Héctor Gaitán‐Peñas, Carla Pérez‐Rius, Ashraf Muhaisen, Aida Castellanos, Ekaitz Errasti‐Murugarren, Alejandro Barrallo‐Gimeno, Francisca Alcaraz‐Pérez, Raúl Estévez   +7 more
wiley   +1 more source

Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene

Neuromuscular Disorders, 2012
Myotonia congenita is an inherited muscle disorder caused by mutations in the CLCN1 gene, a voltage-gated chloride channel of skeletal muscle. We have studied 48 families with myotonia, 32 out of them carrying mutations in CLCN1 gene and eight carry mutations in SCN4A gene.
María J, Mazón, Francisco, Barros, Pilar, De la Peña, Juan F, Quesada, Adela, Escudero, Ana M, Cobo, Samuel I, Pascual-Pascual, Eduardo, Gutiérrez-Rivas, Encarna, Guillén, Javier, Arpa, Pilar, Eraso, Francisco, Portillo, Jesús, Molano   +12 more
openaire   +4 more sources

In vivo assessment of muscle membrane properties in myotonic dystrophy [PDF]

, 2016
INTRODUCTION: Myotonia in myotonic dystrophy types 1 (DM1) and 2 (DM2) is generally attributed to reduced chloride channel conductance. We used muscle velocity recovery cycles (MVRCs) to investigate muscle membrane properties in DM1 and DM2, with ...
Bostock, H, Boërio, D, Hanna, MG, Tan, SV, Turner, C, Z'Graggen, WJ   +5 more
core  

Estimation of carrier frequencies utilizing the gnomAD database for ACMG recommended carrier screening and Finnish disease heritage conditions in non‐Finnish European, Finnish, and Ashkenazi Jewish populations

American Journal of Medical Genetics Part A, Volume 194, Issue 7, July 2024.
Abstract American College of Medical Genetics and Genomics (ACMG) recommends offering Tier 3 carrier screening to pregnant patients and those planning a pregnancy for conditions with a carrier frequency of ≥1/200 (96 genes for autosomal recessive [AR] conditions).
Miska Kandolin, Minna Pöyhönen, Eveliina Jakkula   +2 more
wiley   +1 more source

Improving genetic diagnostics of skeletal muscle channelopathies [PDF]

, 2020
Introduction: Skeletal muscle channelopathies are rare inherited conditions that cause significant morbidity and impact on quality of life. Some subsets have a mortality risk.
Hanna, MG, Mannikko, R, Matthews, E, Vivekanandam, V   +3 more
core  

Functional Classification of Skeletal Muscle Networks. I. Normal Physiology [PDF]

, 2012
Extensive measurements of the parts list of human skeletal muscle through transcriptomics and other phenotypic assays offer the opportunity to reconstruct detailed functional models.
Subramaniam, Shankar, Wang, Yu, Winters, John   +2 more
core   +2 more sources

First Two Case Reports of Becker’s Type Myotonia Congenita in Colombia: Clinical and Genetic Features

The Application of Clinical Genetics, 2021
Jorge Andres Olave-Rodriguez,1 Francisco Javier Bonilla-Escobar,2– 4 Estephania Candelo,5,6 Lisa Ximena Rodriguez-Rojas1,7 1Universidad Icesi, Faculty of Health Sciences, Cali, Colombia; 2Somos Ciencia al Servicio de la Comunidad, Fundación SCISCO ...
Olave-Rodriguez JA, Bonilla-Escobar FJ, Candelo E, Rodriguez-Rojas LX   +3 more
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