Results 91 to 100 of about 3,302 (205)
European Journal of Histochemistry, 2009 Hereditary muscle channelopathies are caused by dominant mutations in the genes encoding for subunits of muscle voltage- gated ion channels. Point mutations on the human skeletal muscle Na+ channel (Nav1.4) give rise to hyperkalemic periodic paralysis ...
G Meola +3 more
doaj +1 more source
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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ClC-1 Chloride Channel: Inputs on the Structure-Function Relationship of Myotonia Congenita-Causing Mutations. [PDF]
Biomedicines, 2023 Brenes O, Pusch M, Morales F.
europepmc +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 +4 more
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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 +2 more
doaj
Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children. [PDF]
J Neuromuscul Dis, 2023 Öz Tunçer G +15 more
europepmc +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
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
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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A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment. [PDF]
J Vet Intern Med, 2022 Woelfel C +4 more
europepmc +1 more source