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Myotonia congenita

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https://www.readbyqxmd.com/read/30284249/elevation-of-extracellular-osmolarity-improves-signs-of-myotonia-congenita-in-vitro-a-preclinical-animal-study
#1
Kerstin Hoppe, Sunisa Chaiklieng, Frank Lehmann-Horn, Karin Jurkat-Rott, Scott Wearing, Werner Klingler
KEY POINTS: During myotonia congenita reduced chloride (Cl- ) conductance results in impaired muscle relaxation and increased muscle stiffness after forceful voluntary contraction. Repetitive contraction of myotonic muscle decreases or even abolishes myotonic muscle stiffness, a phenomenon called "warm up". Pharmacological inhibition of low Cl- channels by Anthracene-9-Carboxylic Acid from ADR muscle from mice showed a relaxation deficit at physiological conditions compared to wild-type muscle...
October 3, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/30243293/a-case-report-autosomal-recessive-myotonia-congenita-caused-by-a-novel-splice-mutation-c-1401-1g-a-in-clcn1-gene-of-a-chinese-han-patient
#2
Jing Miao, Xiao-Jing Wei, Xue-Mei Liu, Zhi-Xia Kang, Yan-Lu Gao, Xue-Fan Yu
BACKGROUND: Autosomal recessive Myotonia congenita (Becker's disease) is caused by mutations in the CLCN1 gene. The condition is characterized by muscle stiffness during sustained muscle contraction and variable degree of muscle weakness that tends to improve with repeated contractions. CASE PRESENTATION: A 21-year-old man presented with transient muscle stiffness since the last 10 years. He had difficulty in initiating movement and experienced muscle weakness after rest, which typically improved after repeated contraction (warm-up phenomenon)...
September 22, 2018: BMC Neurology
https://www.readbyqxmd.com/read/29935101/the-analysis-of-myotonia-congenita-mutations-discloses-functional-clusters-of-amino-acids-within-the-cbs2-domain-and-the-c-terminal-peptide-of-the-clc-1-channel
#3
Concetta Altamura, Sabrina Lucchiari, Dalila Sahbani, Gianna Ulzi, Giacomo P Comi, Paola D'Ambrosio, Roberta Petillo, Luisa Politano, Liliana Vercelli, Tiziana Mongini, Maria Teresa Dotti, Rosanna Cardani, Giovanni Meola, Mauro Lo Monaco, Emma Matthews, Michael G Hanna, Maria Rosaria Carratù, Diana Conte, Paola Imbrici, Jean-François Desaphy
Myotonia congenita (MC) is a skeletal-muscle hyperexcitability disorder caused by loss-of-function mutations in the ClC-1 chloride channel. Mutations are scattered over the entire sequence of the channel protein, with more than 30 mutations located in the poorly characterized cytosolic C-terminal domain. In this study, we characterized, through patch clamp, seven ClC-1 mutations identified in patients affected by MC of various severities and located in the C-terminal region. The p.Val829Met, p.Thr832Ile, p...
September 2018: Human Mutation
https://www.readbyqxmd.com/read/29934119/myotonia-congenita-in-a-labrador-retriever-with-truncated-clcn1
#4
Pia R Quitt, Marjo K Hytönen, Kaspar Matiasek, Marco Rosati, Andrea Fischer, Hannes Lohi
An eight week old Labrador Retriever puppy presented with stiff-legged robotic gait. Abnormal gait was most evident after rest and improved with prolonged activity. On occasions, initiation of sudden movements would result in collapse with rigidity of the trunk and stiff extended limbs for several seconds. Other clinical signs were excitement-induced upper airway stridor and oropharyngeal dysphagia. Myotonia congenita was diagnosed based on clinical signs, abundant myotonic discharges on electromyography and exclusion of structural myopathies on histology...
July 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29896741/-analysis-of-clcn1-gene-mutations-in-a-family-affected-with-myotonia-congenita
#5
Feng Jing, Haijiang Li, Dan Yang, Tao Chen, Yuexian Liu, Lidan Yu
OBJECTIVE: To detect potential mutations of chloride channel l (CLCN1) gene in a family affected with myotonia congenita. METHODS: Clinical data of the proband and her parents and brother was collected. The coding regions of the CLCN1 gene were subjected to PCR and Sanger sequencing. RESULTS: Two missense mutations (c.937G>A and c.1205C>T), which were respectively located within exons 8 and 11 of the CLCN1 gene, were identified in the proband...
June 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29889082/beyond-the-muscular-involvement-in-non-dystrophic-myotonias-the-emerging-role-of-neuromodulation
#6
Simona Portaro, Antonino Naro, Alessia Bramanti, Antonino Leo, Alfredo Manuli, Tina Balletta, Antonia Trinchera, Placido Bramanti, Rocco Salvatore Calabrò
BACKGROUND: The central nervous system involvement, in terms of a maladaptive sensory-motor plasticity, is well known in patients with dystrophic myotonias (DMs). To date, there are no data suggesting a central nervous system involvement in non-dystrophic myotonias (NDMs). OBJECTIVE: To investigate sensory-motor plasticity in patients with Myotonia Congenita (MC) and Paramyotonia Congenita (PMC) with or without mexiletine. METHODS: Twelve patients with a clinical, genetic, and electromyographic evidence of MC, fifteen with PMC, and 25 healthy controls (HC) were included in the study...
2018: Restorative Neurology and Neuroscience
https://www.readbyqxmd.com/read/29851785/a-case-report-of-recessive-myotonia-congenita-and-early-onset-cognitive-impairment-is-it-a-causal-or-casual-link
#7
Simona Portaro, Alberto Cacciola, Antonino Naro, Demetrio Milardi, Rosa Morabito, Francesco Corallo, Silvia Marino, Alessia Bramanti, Emanuela Mazzon, Rocco Salvatore Calabrò
RATIONALE: Myotonia congenita (MC) is a non-dystrophic myotonia inherited either in dominant (Thomsen) or recessive (Becker) form. MC is due to an abnormal functioning of skeletal muscle voltage-gated chloride channel (CLCN1), but the genotype/phenotype correlation remains unclear. PATIENT CONCERNS: A 48-year-old man, from consanguineous parents, presented with a fixed muscle weakness, muscle atrophy, and a cognitive impairment. Notably, his brother presented the same mutation but with a different phenotype, mainly involving cognitive function...
June 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29695755/clinical-utility-gene-card-for-autosomal-dominant-myotonia-congenita-thomsen-disease
#8
David J Coote, Mark R Davis, Macarena Cabrera, Merrilee Needham, Nigel G Laing, Kristen J Nowak
No abstract text is available yet for this article.
July 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29606556/prevalence-and-mutation-spectrum-of-skeletal-muscle-channelopathies-in-the-netherlands
#9
B C Stunnenberg, J Raaphorst, J C W Deenen, T P Links, A A Wilde, D J Verbove, E J Kamsteeg, A van den Wijngaard, C G Faber, G J van der Wilt, B G M van Engelen, G Drost, H B Ginjaar
Few reliable data exist on the prevalence of skeletal muscle channelopathies. We determined the minimum point prevalence of genetically-defined skeletal muscle channelopathies in the Netherlands and report their mutation spectrum. Minimum point prevalence rates were calculated as number of genetically-confirmed skeletal muscle channelopathy patients (CLCN1, SCN4A, CACNA1S and KCNJ2 gene mutations) in the Netherlands (1990-2015) divided by the total number of at-risk individuals. Rates were expressed as cases/100...
May 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29500929/mapping-ligand-binding-pockets-in-chloride-clc-1-channels-through-an-integrated-in-silico-and-experimental-approach-using-anthracene-9-carboxylic-acid-and-niflumic-acid
#10
C Altamura, G F Mangiatordi, O Nicolotti, D Sahbani, A Farinato, F Leonetti, M R Carratù, D Conte, J-F Desaphy, P Imbrici
BACKGROUND AND PURPOSE: Although chloride channels are involved in several physiological processes and acquired diseases, the availability of compounds selectively targeting CLC proteins is limited. ClC-1 channels are responsible for sarcolemma repolarization after an action potential in skeletal muscle and have been associated with myotonia congenita and myotonic dystrophy as well as with other muscular physiopathological conditions. To date only a few ClC-1 blockers have been discovered, such as anthracene-9-carboxylic acid (9-AC) and niflumic acid (NFA), whereas no activator exists...
May 2018: British Journal of Pharmacology
https://www.readbyqxmd.com/read/29480456/becker-s-myotonia-novel-mutations-and-clinical-variability-in-patients-born-to-consanguineous-parents
#11
Ibrahim Sahin, Haktan B Erdem, Huseyin Tan, Abdulgani Tatar
Myotonia congenita is an inherited muscle disease present from childhood that is characterized by impaired muscle relaxation after contraction resulting in muscle stiffness; moreover, skeletal striated muscle groups may be involved. Myotonia congenita occurs due to chloride (Cl) channel mutations that reduce the stabilizing Cl conductance, and it is caused by mutations in the CLCN1 gene. This paper describes four patients from two different healthy consanguineous Turkish families with muscle stiffness and easy fatigability...
February 26, 2018: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/29451154/novel-mutations-in-scn4a-gene-cause-myotonia-congenita-with-scoliosis
#12
Yang-Qi Xu, Xiao-Li Liu, Xiao-Jun Huang, Wo-Tu Tian, Hui-Dong Tang, Li Cao
No abstract text is available yet for this article.
February 20, 2018: Chinese Medical Journal
https://www.readbyqxmd.com/read/29424939/clcn1-myotonia-congenita-mutation-with-a-variable-pattern-of-inheritance-suggests-a-novel-mechanism-of-dominant-myotonia
#13
Héctor Gaitán-Peñas, Mercedes Armand-Ugón, Alfons Macaya, Raúl Estévez
INTRODUCTION: Mutations in CLCN1 cause recessive or dominant forms of myotonia congenita (MC). Some mutations have been found to exhibit both patterns of inheritance but the mechanism explaining this behavior is unknown. METHODS: A known recessive missense mutation, A493E, was identified in a family with dominant MC. The mutant p.A493E alone or in co-expression with wild-type (WT) ClC-1 was expressed in Xenopus oocytes. Currents were measured and biochemical assays were performed...
February 9, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29405036/structural-modeling-of-altered-clcn1-conformation-following-a-novel-mutation-in-a-patient-affected-by-autosomal-dominant-myotonia-congenita-thomsen-disease
#14
Rosangela Ferese, Veronica Albano, Mattia Falconi, Federico Iacovelli, Rosa Campopiano, Simona Scala, Anna Maria Griguoli, Anderson Gaglione, Emiliano Giardina, Stefania Zampatti, Marianna Storto, Francesco Fornai, Carmelo D'Alessio, Giuseppe Novelli, Stefano Gambardella
No abstract text is available yet for this article.
December 1, 2017: Archives Italiennes de Biologie
https://www.readbyqxmd.com/read/29391559/substitutions-of-the-s4div-r2-residue-r1451-in-na-v-1-4-lead-to-complex-forms-of-paramyotonia-congenita-and-periodic-paralyses
#15
Hugo Poulin, Pascal Gosselin-Badaroudine, Savine Vicart, Karima Habbout, Damien Sternberg, Serena Giuliano, Bertrand Fontaine, Saïd Bendahhou, Sophie Nicole, Mohamed Chahine
Mutations in NaV 1.4, the skeletal muscle voltage-gated Na+ channel, underlie several skeletal muscle channelopathies. We report here the functional characterization of two substitutions targeting the R1451 residue and resulting in 3 distinct clinical phenotypes. The R1451L is a novel pathogenic substitution found in two unrelated individuals. The first individual was diagnosed with non-dystrophic myotonia, whereas the second suffered from an unusual phenotype combining hyperkalemic and hypokalemic episodes of periodic paralysis (PP)...
February 1, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29381887/myotonia-congenita-can-be-mistaken-as-paroxysmal-kinesigenic-dyskinesia
#16
Aryun Kim, Mihee Jang, Han-Joon Kim, Yoon Kim, Dae-Seong Kim, Jin-Hong Shin, Beomseok Jeon
No abstract text is available yet for this article.
January 2018: Journal of Movement Disorders
https://www.readbyqxmd.com/read/29166669/frequency-of-five-disease-causing-genetic-mutations-in-a-large-mixed-breed-dog-population-2011-2012
#17
Sharon Zierath, Angela M Hughes, Neale Fretwell, Mark Dibley, Kari J Ekenstedt
BACKGROUND: A large and growing number of inherited genetic disease mutations are now known in the dog. Frequencies of these mutations are typically examined within the breed of discovery, possibly in related breeds, but nearly always in purebred dogs. No report to date has examined the frequencies of specific genetic disease mutations in a large population of mixed-breed dogs. Further, veterinarians and dog owners typically dismiss inherited/genetic diseases as possibilities for health problems in mixed-breed dogs, assuming hybrid vigor will guarantee that single-gene disease mutations are not a cause for concern...
2017: PloS One
https://www.readbyqxmd.com/read/29111379/a-scn4a-mutation-causing-paramyotonia-congenita
#18
Carmen Palma, Carmen Prior, Clara Gómez-González, Carlos Rodríguez-Antolin, Paloma Martínez-Montero, Lucía Pérez de Ayala, Samuel I Pascual, Jesús Molano Mateos
Paramyotonia congenita (OMIM 168300) is a non-dystrophic myopathy caused by mutations in the SCN4A gene that sometimes can be confused with myotonia congenita. Another disease also caused by mutations in the gene SCN4A is called myotonia aggravated by potassium (OMIM 170500, 613345). It is estimated that more than 20% of patients with suspected myotonia congenita suffer paramyotonia congenita. The two related SCN4A phenotypes exhibit an autosomal dominant inheritance and are the result of mutations that cause an increase in the function of the protein coded by this gene...
December 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29050397/the-antimyotonic-effect-of-lamotrigine-in-non-dystrophic-myotonias-a-double-blind-randomized-study
#19
RANDOMIZED CONTROLLED TRIAL
Grete Andersen, Gitte Hedermann, Nanna Witting, Morten Duno, Henning Andersen, John Vissing
Mexiletine is the only drug with proven effect for treatment of non-dystrophic myotonia, but mexiletine is expensive, has limited availability and several side effects. There is therefore a need to identify other pharmacological compounds that can alleviate myotonia in non-dystrophic myotonias. Like mexiletine, lamotrigine is a sodium channel blocker, but unlike mexiletine, lamotrigine is available, inexpensive, and well tolerated. We investigated the potential of using lamotrigine for treatment of myotonia in patients with non-dystrophic myotonias...
September 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29015224/myotonia-congenita-thomsen-s-disease
#20
N S Variava
No abstract text is available yet for this article.
May 1949: Indian Medical Gazette
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