Results 21 to 30 of about 12,609 (254)

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

Uncovering the CLCN1 Y150* nonsense variant in myotonia congenita: genetic evidence from segregation analysis

Acta Neurologica Belgica, 2020
Myotonia congenita is a rare genetic disorder characterized by skeletal muscle membrane hyperexcitability due to CLCN1 mutations. It can be inherited in either an autosomal dominant (Thomsen disease) or autosomal recessive (Becker disease) manner.
Betul Okur Altindas, A. Zamani, Figen Güney, Mahmut Selman Yıldırım   +3 more
semanticscholar   +1 more source

Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes

Experimental Neurology, 2013
Jean-Francois Desaphy, Concetta Altamura, Paola Imbrici   +2 more
exaly   +2 more sources

Diagnostic modelling and therapeutic monitoring of immune-mediated necrotizing myopathy: role of electrical myotonia

Brain Communications, 2020
Delayed diagnosis of immune-mediated necrotizing myopathy leads to increased morbidity. Patients with the chronic course without 3-hydroxy-3-methylglutaryl-coenzyme-A reductase-IgG or signal recognition particle-IgG are often challenging to diagnose ...
James D. Triplett, Shahar Shelly, G. Livne, M. Milone, C. Kassardjian, T. Liewluck, Cecilia R Kelly, E. Naddaf, R. Laughlin, Christopher J Lamb, D. Rubin, E. Dimberg, Divanshu Dubey, J. Mills, J. Mandrekar, C. Klein   +15 more
semanticscholar   +1 more source

The mechanism underlying transient weakness in myotonia congenita

bioRxiv, 2020
In addition to the hallmark muscle stiffness, patients with recessive myotonia congenita (Becker disease) experience debilitating bouts of transient weakness that remain poorly understood despite years of study.
J. H. Myers, K. Denman, Chris Dupont, A. Hawash, Kevin R. Novak, Andrew G. Koesters, M. Grabner, Anamika Dayal, A. Voss, M. Rich   +9 more
semanticscholar   +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

Changes of Resurgent Na+ Currents in the Nav1.4 Channel Resulting from an SCN4A Mutation Contributing to Sodium Channel Myotonia

International Journal of Molecular Sciences, 2020
Myotonia congenita (MC) is a rare disorder characterized by stiffness and weakness of the limb and trunk muscles. Mutations in the SCN4A gene encoding the alpha-subunit of the voltage-gated sodium channel Nav1.4 have been reported to be responsible for ...
Chiung-Wei Huang, Hsing-Jung Lai, Pi-Chen Lin, Ming‐Jen Lee   +3 more
semanticscholar   +1 more source

Autosomal recessive nondystrophic myotonia report of a case with unusual clinical course: relato de um caso com aspectos clínicos atípicos

Arquivos de Neuro-Psiquiatria, 1995
We describe the case of a girl with a probable autosomal recessive form of nondystrophic hereditary myotonia whose clinical findings are more compatible with the dominant ones mainly myotonia congenita of Thomsen or myotonia fluctuans.
Umbertina C. Reed, Suely K. Nagahashi Marie, Mario Wilson I. Brotto, Carlos Alberto Martinez, Paulo E. Marchiori, Aron Diament, José Antonio Levy   +6 more
doaj   +1 more source

CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia Congenita

Frontiers in Neurology, 2020
Myotonia congenita is a genetic disease characterized by impaired muscle relaxation after forceful contraction (myotonia). It is caused by mutations in the CLCN1 gene, encoding the voltage-gated chloride channel of skeletal muscle, ClC-1.
C. Orsini, R. Petillo, P. D’ambrosio, M. Ergoli, E. Picillo, M. Scutifero, L. Passamano, A. De Luca, L. Politano   +8 more
semanticscholar   +1 more source

Effect of Mexiletine on Muscle Stiffness in Patients With Nondystrophic Myotonia Evaluated Using Aggregated N-of-1 Trials

Journal of the American Medical Association (JAMA), 2018
Importance In rare diseases it is difficult to achieve high-quality evidence of treatment efficacy because of small cohorts and clinical heterogeneity. With emerging treatments for rare diseases, innovative trial designs are needed.
B. Stunnenberg, J. Raaphorst, H. Groenewoud, J. Statland, R. Griggs, W. Woertman, D. Stegeman, J. Timmermans, Jaya R. Trivedi, E. Matthews, C. Saris, B. Schouwenberg, G. Drost, B. V. van Engelen, G. J. van der Wilt   +14 more
semanticscholar   +1 more source