Results 101 to 110 of about 11,146 (222)

Myotonia [PDF]

Neuromuscular Disorders, 2019
D. Vlodavets, M. Shkolnikova, V. Bereznitskaya, Z. Romantsova, R. Ildarova, A. Monakhova, O. Shidlovskaya, I. Shulyakova, S. Artemieva, E. Litvinova, E. Belousova   +10 more
openaire   +2 more sources

Idiopathic generalized epilepsy in a family with SCN4A‐related myotonia

Epilepsia Open
Objectives Myotonia is a clinical sign typical of a group of skeletal muscle channelopathies, the non‐dystrophic myotonias. These disorders are electrophysiologically characterized by altered membrane excitability, due to specific genetic variants in ...
Mariagrazia Talarico, Francesco Fortunato, Audrey Labalme, Louis Januel, Nicolas Chatron, Damien Sanlaville, Ilaria Sammarra, Monica Gagliardi, Radha Procopio, Paola Valentino, Grazia Annesi, Gaetan Lesca, Antonio Gambardella   +12 more
doaj   +1 more source

Phosphorylation and protonation of neighboring MiRP2 sites: function and pathophysiology of MiRP2-Kv3.4 potassium channels in periodic paralysis. [PDF]

, 2006
MinK-related peptide 2 (MiRP2) and Kv3.4 subunits assemble in skeletal muscle to create subthreshold, voltage-gated potassium channels. MiRP2 acts on Kv3.4 to shift the voltage dependence of activation, speed recovery from inactivation, suppress ...
Abbott, Geoffrey W, Butler, Margaret H, Goldstein, Steve AN   +2 more
core   +1 more source

Revisión bibliográfica sobre la paramiotonía congénita [PDF]

, 2013
Introducción. La paramiotonía congénita es una infrecuente patología muscular hereditaria cuyos síntomas principales son la miotonía no distrófica y los periodos de paresia/parálisis.
Guirao Martínez, Sebastián
core   +1 more source

Editorial: New Insights in Skeletal Muscle Channelopathies - A Rapidly Expanding Field

Frontiers in Neurology, 2020
Lorenzo Maggi, Emma Matthews, Emma Matthews, Jean-François Desaphy   +3 more
doaj   +1 more source

Muscle channelopathies and electrophysiological approach

Annals of Indian Academy of Neurology, 2008
Myotonic syndromes and periodic paralyses are rare disorders of skeletal muscle characterized mainly by muscle stiffness or episodic attacks of weakness.
Cherian Ajith, Baheti Neeraj, Kuruvilla Abraham   +2 more
doaj  

Schwartz-Jampel Syndrome Type 1: Compound Heterozygosity of Two Novel Variants

JCRPE
Schwartz-Jampel syndrome (SJS) type 1 (OMIM; #255800), a rare cause of skeletal dysplasia, is characterized by myotonic myopathy, chondrodystrophy, short stature, facial and eye abnormalities. SJS type 1 develops due to variations in the HSPG2 gene which
Fatma Güliz Atmaca, Özlem Akgün Doğan, Büşra Kutlubay, Heves Kırmızıbekmez   +3 more
doaj   +1 more source

Prevalence of myotonic dystrophy in Iceland [PDF]

, 2007
Neðst á síðunni er hægt er að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenOBJECTIVE: Epidemiologic studies of Myotonic Dystrophy (Dystrophic Myotony, DM) have shown variable regional prevalence from 0,46 to 189/105.
Gerður Leifsdóttir, Guðjón Jóhannesson, John Benedikz, Jón Jóhannes Jónsson, Sigurlaug Svein­björnsdóttir   +4 more
core  

Corrigendum: Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in SCN4A

Frontiers in Neurology, 2020
Nathaniel Elia, Nathaniel Elia, Trystan Nault, Hugh J. McMillan, Gail E. Graham, Lijia Huang, Stephen C. Cannon   +6 more
doaj   +1 more source

Case report: A CLCN1 complex variant mutation in exon 15 in a mixed-breed dog with hereditary myotonia

Frontiers in Veterinary Science
At 4 months of age, a male dog was presented with a complaint of a stiff gait following a startle response. Neurological examination revealed no deficits, but clinical myotonia was easily induced upon requesting the patient to jump.
Gabriel Utida Eguchi, Mariana Isa Poci Palumbo, Fabrício Moreira Cerri, Roberta Martins Basso, José Paes de Oliveira-Filho, Silvana Marques Caramalac, Alexandre Secorun Borges   +6 more
doaj   +1 more source