Results 101 to 110 of about 10,373 (189)

Plateau potentials contribute to myotonia in mouse models of myotonia congenita. [PDF]

Exp Neurol, 2023
Wang X, Dupont C, Grant D, Voss AA, Rich MM.   +4 more
europepmc   +1 more source

ePosters Virtual

European Journal of Neurology, Volume 32, Issue S1, June 2025.
wiley   +1 more source

Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family. [PDF]

Front Genet, 2022
Musa NH, Thilakavathy K, Mohamad NA, Kennerson ML, Inche Mat LN, Loh WC, Abdul Rashid AM, Baharin J, Ibrahim A, Wan Sulaiman WA, Hoo FK, Basri H, Yusof Khan AHK.   +12 more
europepmc   +1 more source

Autosomal recessive myotonia congenita, a muscle channelopathy, presenting in Nigerian siblings: A report

International Journal of Medicine and Health Development, 2008
Background: The muscle diseases are frequently encountered in medical clinics in Nigeria. In many cases however they are not optimally managed. The ion channel diseases, ‘channelopathies’, are a group of muscle disorders that share a lot of clinical ...
Ikenna O Onwuekwe, Oluchi S Ekenze, Birinus Ezeala-Adikaibe   +2 more
doaj  

First Two Case Reports of Becker's Type Myotonia Congenita in Colombia: Clinical and Genetic Features. [PDF]

Appl Clin Genet, 2021
Olave-Rodriguez JA, Bonilla-Escobar FJ, Candelo E, Rodriguez-Rojas LX.   +3 more
europepmc   +1 more source

Transient weakness and compound muscle action potential decrement in myotonia congenita

, 1998
Twenty-five Turkish patients with recessive myotonia congenita (RMC), 16 of whom had genetic confirmation, were studied. Nineteen had transient weakness. In the upper extremities, onset age of transient weakness was usually in the early teens.
Deymeer, F, Rudel, R, Schleithoff, L, Ozdemir, C, Lehmann-Horn, F, Serdaroglu, P, Cakirkaya, S   +6 more
core  

Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype.

, 2004
Udgivelsesdato: 2004-SepMutations in the CLCN1 gene, encoding a muscle-specific chloride channel, can cause either recessive or dominant myotonia congenita (MC).
Eskild Colding-Jørgensen, Grunnet, Morten, Jespersen, Thomas, Vissing, John, Morten Grunnet, Thomas Jespersen, Schwartz, Marianne, Marianne Schwartz, Colding-Jørgensen, Eskild, Dunø, Morten, Morten Dunø, John Vissing   +11 more
core   +1 more source

Chaperone activity of niflumic acid on ClC-1 chloride channel mutants causing myotonia congenita. [PDF]

Front Pharmacol, 2022
Altamura C, Conte E, Campanale C, Laghetti P, Saltarella I, Camerino GM, Imbrici P, Desaphy JF.   +7 more
europepmc   +1 more source

Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita

, 2011
Transitory depression of the compound muscle action potential during repetitive nerve stimulation is a well-documented neurophysiologic finding in recessive myotonia congenita.
Adele D'Amico, D'Amico, Adele, Maria Lucia Mereu, Elisa Pisaneschi, Merlini, Luciano, VALENTE, ENZA MARIA, Luciano Merlini, Gabriella Silvestri, Modoni, Anna, Lo Monaco, Mauro, Bruno Dallapiccola, Torrente, Isabella, Mauro Lo Monaco, Pagliarani, Serena, Pisaneschi, Elisa, Enza Maria Valente, Isabella Torrente, Anna Modoni, Silvestri, Gabriella, Mereu, Maria Lucia, Serena Pagliarani, Dallapiccola, Bruno   +21 more
core   +1 more source

A Novel Mutation in the CLCN1 Gene Causing Autosomal Recessive Myotonia Congenita in Siblings. [PDF]

Ann Indian Acad Neurol, 2021
Chakravarty K, Lal V, Ray S.
europepmc   +1 more source