Results 51 to 60 of about 3,216 (202)

Overexpression of CUGBP1 in skeletal muscle from adult classic myotonic dystrophy type 1 but not from myotonic dystrophy type 2 [PDF]

, 2013
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are progressive multisystemic disorders caused by similar mutations at two different genetic loci. The common key feature of DM pathogenesis is nuclear accumulation of mutant RNA which causes aberrant ...
Botta, A, Bugiardini, E, Cardani, R, Colombo, G, Meola, G, Novelli, G, Renna, L, Rossi, G, Valaperta, R   +8 more
core   +2 more sources

Restricting calcium currents is required for correct fiber type specification in skeletal muscle [PDF]

, 2018
K
Benedetti, Ariane, Csernoch, László, Dienes, Beatrix, Flucher, Bernhard E., Hess, Michael W., Obermair, Gerald J., Rainer, Johannes, Schwarzer, Christoph, Sultana, Nasreen, Szentesi, Péter, Sztretye, Mónika, Tuluc, Petronel   +11 more
core   +1 more source

Functional analysis of the F337C mutation in the CLCN1 gene associated with dominant myotonia congenita reveals an alteration of the macroscopic conductance and voltage dependence

Molecular Genetics & Genomic Medicine, 2021
Background Myotonia congenita (MC) is a common channelopathy affecting skeletal muscle and which is due to pathogenic variants within the CLCN1 gene. Various alterations in the function of the channel have been reported and we here illustrate a novel one.
Kevin Jehasse, Kathleen Jacquerie, Alice de Froidmont, Camille Lemoine, Thierry Grisar, Katrien Stouffs, Bernard Lakaye, Vincent Seutin   +7 more
doaj   +1 more source

The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia

Frontiers in Neurology, 2022
IntroductionNon-dystrophic myotonias (NDMs) are skeletal muscle ion channelopathies caused by CLCN1 or SCN4A mutations. This study aimed to describe the clinical, myopathological, and genetic analysis of NDM in a large Chinese cohort.MethodsWe reviewed ...
Quanquan Wang, Quanquan Wang, Zhe Zhao, Hongrui Shen, Qi Bing, Nan Li, Jing Hu   +6 more
doaj   +1 more source

Properties of the Domain-II Voltage Sensor Determining the Function of Nav1.8 (SCN10A) Channels [PDF]

, 2010
Stable isotope record from snow pit ...
Arnaud, Laurent, Casado, Mathieu, Dreossi, Giuliano, Ekaykin, Alexey A, Genthon, Christophe, Jouzel, Jean, Laepple, Thomas, Landais, Amaelle, Masson-Delmotte, Valerie, Münch, Thomas, Picard, Ghislain, Stenni, Barbara, Touzeau, Alexandra   +12 more
core   +1 more source

Novel CLCN1 Mutations and Clinical Features of Korean Patients with Myotonia Congenita

Journal of Korean Medical Science, 2009
Myotonia congenita (MC) is a form of nondystrophic myotonia caused by a mutation of CLCN1, which encodes human skeletal muscle chloride channel (CLC-1). We performed sequence analysis of all coding regions of CLCN1 in patients clinically diagnosed with MC, and identified 10 unrelated Korean patients harboring mutations.
Moon, In-Soo, Kim, Hyang-Sook, Shin, Jin-Hong, Park, Yeong-Eun, Park, Kyu-Hyun, Shin, Yong-Bum, Bae, Jong Seok, Choi, Young-Chul, Kim, Dae-Seong   +8 more
openaire   +3 more sources

RYR 1 Gene Mutation in Motor Neuron Disease: A 10-Year Case Observation. [PDF]

Case Rep Neurol Med
Motor neuron diseases (MND) are a group of rare, often severe, and life‐limiting progressive neurological disorders that primarily affect motor neurons, resulting in muscle weakness and loss of essential muscle functions. Genetic defects play a significant role in MND, contributing to their pathogenesis and progression.
Posa A, Kornhuber M.
europepmc   +2 more sources

Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy [PDF]

, 2013
Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different cell types. Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly ...
A Buj-Bello, A Lujan Feliu-Pascual, A Razzaq, A Tjondrokoesoemo, A Toussaint, AC Durieux, AH Beggs, AJ Muller, Anne Toussaint, AS Nicot, AY Mejaddam, B Qualmann, B Sinha, Belinda Cowling, BJ Peter, BS Cowling, C Fugier, C Kojima, C Spiegelhalter, CJ McMillan, CR Pierson, D Bansal, D Grabs, D Sakamuro, DJ Owen, E Lee, G Di Paolo, G Ren, G. Diane Shelton, Gregory A. Cox, H Jungbluth, Ivana Prokic, J Bohm, J Laporte, J Weis, JJ Dowling, Joachim Weis, Jocelyn Laporte, Johann Böhm, KC Chang, KG Claeys, L Klinge, Laurent Tiret, M Bitoun, M Maurer, M Pele, Marie Maurer, MH Butler, Nasim Vasli, NB Romero, NC Mao, R Wechsler-Reya, RJ Wechsler-Reya, S Pant, SE Davies, T Itoh, Thomas James Anderson, Ulrike Schara, Wolfram Kress   +58 more
core   +7 more sources

A complex CLCN1 variant associated with hereditary myotonia in a mixed-breed dog

Journal of Veterinary Diagnostic Investigation, 2023
Hereditary myotonia (HM) is characterized by delayed muscle relaxation after contraction as a result of a mutation in the CLCN1 gene. We describe here a complex CLCN1 variant in a mixed-breed dog with clinical and electromyographic signs of HM. Blood samples from the myotonic dog, as well as from his male littermate and parents, were analyzed via ...
Natielly D. Chimenes, Silvana M. Caramalac, Simone M. Caramalac, Thiago D. Fernandes, Roberta M. Basso, Fabrício M. Cerri, José P. Oliveira-Filho, Alexandre S. Borges, Mariana I. P. Palumbo   +8 more
openaire   +3 more sources

Miotonías no distróficas: aspectos clínicos y terapéuticos

Kranion, 2022
Las miotonías no distróficas son un grupo heterogéneo de canalopatías del músculo esquelético causadas por mutaciones en el gen de los canales de cloro (CLCN1) o de sodio (SCNA4) localizados en la membrana muscular.
Jorge García García
doaj   +1 more source