Anesthesia Experience in a Patient with Myotonia Congenita
Bagcilar Medical Bulletin, 2019 Myotonia congenita (MC) was first described as a skeletal muscle disorder by Thomsen in 1876. As a result of the mutation of the chloride channel gene (CLCN1), which is on the 17th chromosome, patients suffer from muscle contractility and fatigue ...
Yeşim Cokay Abut +5 more
doaj +1 more source
Molecular cloning of ion channels in Felis catus that are related to periodic paralyses in man: a contribution to the understanding of the genetic susceptibility to feline neck ventroflexion and paralysis [PDF]
, 2014 Neck ventroflexion in cats has different causes; however, the most common is the hypokalemia associated with flaccid paralysis secondary to chronic renal failure.
Castillo, Victor A. +7 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
Frontiers in Neurology, 2020 The voltage-dependent ClC-1 chloride channel, whose open probability increases with membrane potential depolarization, belongs to the superfamily of CLC channels/transporters. ClC-1 is almost exclusively expressed in skeletal muscles and is essential for
Chung-Jiuan Jeng +10 more
doaj +1 more source
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations [PDF]
, 2015 BACKGROUND: Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma.
Alan D. Irvine +72 more
core +5 more sources
Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients [PDF]
, 2020 Introduction. Non-dystrophic myotonias (NDM) are heterogeneous diseases caused by mutations in CLCN1 and SCN4A. The study aimed to describe the clinical and genetic spectrum of NDM in a large German cohort. Methods.
Gläser, Dieter +3 more
core +1 more source
Clinical characterization of Collagen XII‐related disease caused by biallelic COL12A1 variants
Annals of Clinical and Translational Neurology, Volume 12, Issue 3, Page 602-614, March 2025.Abstract Objective While there have been several reports of patients with dominantly acting COL12A1 variants, few cases of the more severe recessive Collagen XII‐related disorders have previously been documented. Methods We present detailed clinical, immunocytochemical, and imaging data on eight additional patients from seven families with biallelic ...
Riley M. McCarty +28 more
wiley +1 more source
In vivo assessment of muscle membrane properties in myotonic dystrophy [PDF]
, 2016 INTRODUCTION: Myotonia in myotonic dystrophy types 1 (DM1) and 2 (DM2) is generally attributed to reduced chloride channel conductance. We used muscle velocity recovery cycles (MVRCs) to investigate muscle membrane properties in DM1 and DM2, with ...
Bostock, H +5 more
core
Mutagenesis of the NaChBac sodium channel discloses a functional role for a conserved S6 asparagine [PDF]
, 2017 Asparagine is conserved in the S6 transmembrane segments of all voltage-gated sodium, calcium, and TRP channels identified to date. A broad spectrum of channelopathies including cardiac arrhythmias, epilepsy, muscle diseases, and pain disorders is ...
A Abdul-Gader +60 more
core +1 more source
Structure of the CLC-1 chloride channel from Homo sapiens. [PDF]
, 2018 CLC channels mediate passive Cl- conduction, while CLC transporters mediate active Cl- transport coupled to H+ transport in the opposite direction. The distinction between CLC-0/1/2 channels and CLC transporters seems undetectable by amino acid sequence.
MacKinnon, Roderick, Park, Eunyong
core +2 more sources