Results 1 to 10 of about 11,146 (222)

Discovery and Treatment of Action Potential‐Independent Myotonia in Hyperkalemic Periodic Paralysis [PDF]

Annals of Clinical and Translational Neurology
Objective Hyperkalemic periodic paralysis (hyperKPP) is characterized by attacks of transient weakness. A subset of hyperKPP patients suffers from transient involuntary contraction of muscle (myotonia).
Chris Dupont, Adam Deardorff, Murad Nawaz, Andrew A. Voss, Mark M. Rich   +4 more
doaj   +2 more sources

Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker. [PDF]

Journal of General Physiology, 1996
Missense mutations in the skeletal muscle Na+ channel alpha subunit occur in several heritable forms of myotonia and periodic paralysis. Distinct phenotypes arise from mutations at two sites within the III-IV cytoplasmic loop: myotonia without weakness ...
Stephen C Cannon
exaly   +2 more sources

Clinical and genetic analysis and literature review of children with myotonia congenita due to CLCN1 mutations [PDF]

Italian Journal of Pediatrics
Background Myotonia congenita (MC) is mainly caused by variants in the CLCN1 Gene, which is characterized by having difficulty in relaxing the muscle after active contraction, known as myotonia. This study aims to investigate the clinical characteristics
Xin Wang, Shangyu Wang, Hongdan Qi, Bing Wu, Mingying He, Gang Zhang   +5 more
doaj   +2 more sources

Clinical, electromyographic, and biophysical characterization of the rare Nav1.4 channel mutation SCN4A L1436P [PDF]

Frontiers in Physiology
IntroductionOur aims were to provide an integrated clinical and biophysical characterization of the rare variant NM_000334.4(SCN4A) c.4307T>C (p.Leu1436Pro; L1436P), affecting the skeletal muscle sodium channel Nav1.4, and to compare its functional ...
François Charles Wang, François Charles Wang, Olivier Bouquiaux, Olivier Bouquiaux, Isabelle Lievens, Bernard Lakaye, Laura Vandries, Margaux Poleur, Samira Abdou Ide, Nurcan Inci, Vincent Seutin   +10 more
doaj   +2 more sources

Myotonia Congenita: Case Report of Becker's Variant

Boğaziçi Tıp Dergisi, 2022
Myotonia is a finding caused by muscle hyperexcitability and occurs as a result of delayed relaxation. The two disease groups in which myotonia is seen are myotonic dystrophy from muscular dystrophies and non-dystrophic myotonias from muscle ion channel ...
Okan Akşahin, Mehmet Güney Şenol
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

Becker congenital myotonia in black African with molecular findings

Egyptian Journal of Medical Human Genetics, 2022
Background Congenital myotonia is a congenital disorder that affects skeletal muscles with myotonia. Affected muscles show stiffness and pain sometimes. The two major types of myotonia congenita are known as Thomsen disease and Becker disease.
Simon Azonbakin, Diane Adovoekpe, Marius Adjagba, Jules Alao, Gratien Sagbo, Constant Adjien, Anatole Laleye   +6 more
doaj   +1 more source

Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report

BMC Neurology, 2023
Background Neutral lipid storage disease with myopathy (NLSD-M) is an autosomal recessive disease that manifests itself around the 3rd to 4th decade with chronic myopathy predominantly proximal in the shoulder girdle. Clinical myotonia is uncommon.
João Igor Dantas Landim, Ian Silva Ribeiro, Eduardo Braga Oliveira, Hermany Capistrano Freitas, Lara Albuquerque Brito, Isaac Holanda Mendes Maia, Daniel Gurgel Fernandes Távora, Cleonisio Leite Rodrigues   +7 more
doaj   +1 more source

Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis

Frontiers in Neurology, 2022
Non-dystrophic myotonias (NDM) encompass chloride and sodium channelopathy. Mutations in CLCN1 lead to either the autosomal dominant form or the recessive form of myotonia congenita (MC).
Serena Pagliarani, Giovanni Meola, Giovanni Meola, Melania Filareti, Giacomo Pietro Comi, Sabrina Lucchiari   +5 more
doaj   +1 more source

The UK myotonic dystrophy patient registry: facilitating and accelerating clinical research [PDF]

, 2017
Myotonic dystrophy type 1 (DM1) is the most frequent muscular dystrophy worldwide with complex, multi-systemic, and progressively worsening symptoms. There is currently no treatment for this inherited disorder and research can be challenging due to the ...
Atalaia, Antonio, Cordts, Isabell, Hammans, Simon, Hilton-Jones, David, Jimenez-Moreno, Aura Cecilia, Lochmüller, Hanns, Maddison, Paul, Marini-Bettolo, Chiara, Monckton, Darren G., Nikolenko, Nikoletta, Orrell, Richard, Petty, Richard, Phillips, Margaret, Roberts, Mark, Rogers, Mark, Straub, Volker, Thompson, Rachel, Turner, Chris, Wood, Libby   +18 more
core   +4 more sources