Results 101 to 110 of about 3,329 (204)

A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia

Iranian Journal of Medical Sciences, 2016
Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene.
Mohammad Miryounesi, Soudeh Ghafouri-Fard, Majid Fardaei   +2 more
doaj  

Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children. [PDF]

J Neuromuscul Dis, 2023
Öz Tunçer G, Sanri A, Aydin S, Hergüner ÖM, Özgün N, Kömür M, İçağasioğlu DF, Toker RT, Yilmaz S, Arslan EA, Güngör M, Kutluk G, Erol İ, Mert GG, Polat BG, Aksoy A.   +15 more
europepmc   +1 more source

Treatment Updates for Neuromuscular Channelopathies [PDF]

, 2020
Purpose of review: This article aims to review the current and upcoming treatment options of primary muscle channelopathies including the non-dystrophic myotonias and periodic paralyses.
Fialho, D, Jitpimolmard, N, Matthews, E
core  

A Detailed Clinical Approach to Non-dystrophic Myotonia: A Case Report of Two Brothers With Myotonia Congenita. [PDF]

Cureus, 2023
Gilitwala Z, Satpute S, Patil S.
europepmc   +1 more source

MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. [PDF]

, 2001
The subthreshold, voltage-gated potassium channel of skeletal muscle is shown to contain MinK-related peptide 2 (MiRP2) and the pore-forming subunit Kv3.4.
Abbott, GW, Bendahhou, S, Butler, MH, Dalakas, MC, Goldstein, SA, Ptacek, LJ   +5 more
core  

Nonequilibrium gating and voltage dependence of the ClC-0 Cl- channel. [PDF]

, 1996
The gating of ClC-0, the voltage-dependent Cl- channel from Torpedo electric organ, is strongly influenced by Cl- ions in the external solution. Raising external Cl- over the range 1-600 mM favors the fast-gating open state and disfavors the slow-gating ...
Chen, TY, Miller, C
core  

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  

ePosters Virtual

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

A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment. [PDF]

J Vet Intern Med, 2022
Woelfel C, Meurs K, Friedenberg S, DeBruyne N, Olby NJ.   +4 more
europepmc   +1 more source

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