Results 61 to 70 of about 1,313 (165)

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
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Guidelines on clinical presentation and management of non-dystrophic myotonias [PDF]

, 2020
The non‐dystrophic myotonias (NDMs) are rare muscle hyperexcitability disorders caused by gain‐of‐function mutations in the SCN4A gene or loss‐of‐function mutations in the CLCN1 gene.
Arnold, WD, Barohn, RJ, Cannon, SC, Fontaine, B, Griggs, RC, Hanna, MG, LoRusso, S, Matthews, E, Meola, G, Sansone, VA, Statland, JM, Stunnenberg, B, Trivedi, JR, van Engelen, B, Vicart, S   +14 more
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Clinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations [PDF]

, 2021
Skeletal muscle sodium channelopathies due to SCN4A gene mutations have a broad clinical spectrum. However, each phenotype has been reported in few cases of Chinese origin.
Hanna, MG, Huang, J, Lu, J, Lu, J, Luo, S, Matthews, E, Männikkö, R, Qiao, K, Song, J, Suetterlin, KJ, Sun, J, Xi, J, Zhao, C, Zhou, L, Zhu, W   +14 more
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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
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The impact of molecular biology on clinical neurology. [PDF]

, 2001
Advances in molecular biology have increased our understanding of both inherited and sporadic forms of neurological disease. In this review, the impact of these advances is discussed in relation to specific neurological conditions.
Ho, SL, Mak, W
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Pathophysiological Role of Omega Pore Current in Channelopathies [PDF]

, 2012
In voltage-gated cation channels, a recurrent pattern for mutations is the neutralization of positively charged residues in the voltage-sensing S4 transmembrane segments.
Groome, James, Jurkat-Rott, Karin, Lehmann-Horn, Frank   +2 more
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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
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Periodic paralysis: anatomo-pathology of skeletal muscle of 14 patients [PDF]

, 1994
Periodic paralysis is a rare disease, characterized by transient weakness associated with abnormal levels of serum potassium. Muscle biopsy may show a wide range of abnormalities, vacuoles being more specifically linked to the disease.
Gabbai, Alberto Alain, Kiyomoto, Beatriz Hitomi, Morita, Maria Da Penha Ananias, Oliveira, Acary Souza Bulle, Schmidt, Beny, Tengan, Célia Harumi   +5 more
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Mexiletine (NaMuscla) for the treatment of myotonia in non-dystrophic myotonic disorders [PDF]

, 2020
Introduction: NaMuscla, (mexiletine), is the first licensed treatment for the Non-Dystrophic Myotonias (NDM). NDM are categorized by genetic ion channel dysfunction and cause significant morbidity.
Hanna, MG, Matthews, E, Rayan, D, Suetterlin, KJ   +3 more
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Temperature dependence of erythromelalgia mutation L858F in sodium channel Nav1.7 [PDF]

, 2007
BACKGROUND: The disabling chronic pain syndrome erythromelalgia (also termed erythermalgia) is characterized by attacks of burning pain in the extremities induced by warmth.
Dib-Hajj, Sulayman D, Han, Chongyang, Lampert, Angelika, Rush, Anthony M, Wang, Xiaoliang, Waxman, Stephen G, Yang, Yong   +6 more
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