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https://www.readbyqxmd.com/read/29451154/novel-mutations-in-scn4a-gene-cause-myotonia-congenita-with-scoliosis
#1
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
#2
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 behaviour 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 ClC-1 was expressed in Xenopus oocytes. Currents were measured and biochemical assays were performed. Results The mutant showed no significant activity and reduced total and plasma membrane (PM) protein levels...
February 9, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29416471/a-successful-anesthetic-approach-in-a-patient-with-schwartz-jampel-syndrome
#3
Fernando Calado de Oliveira Camacho, Tânia Marina Lopes Amaral, Joana Irene de Barros Mourão
Schwartz-Jampel syndrome (SJS) is a rare genetic condition that is characterized by several musculoskeletal abnormalities, such as myotonia, joint contractures, and facial dysmorphisms. Patients with this syndrome can present an anesthetic challenge, due to an increased risk of developing malignant hyperthermia (MH) and the possibility of encountering a difficult airway. Several precautions must be taken when general anesthesia is required, such as the avoidance of potential triggers for MH, continuous core temperature, and end-tidal CO2 monitoring, assuring that dantrolene is readily available...
January 2018: Saudi Journal of Anaesthesia
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
#4
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-nav1-4-lead-to-complex-forms-of-paramyotonia-congenita-and-periodic-paralyses
#5
Hugo Poulin, Pascal Gosselin-Badaroudine, Savine Vicart, Karima Habbout, Damien Sternberg, Serena Giuliano, Bertrand Fontaine, Saïd Bendahhou, Sophie Nicole, Mohamed Chahine
Mutations in NaV1.4, 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
#6
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/29356569/olanzapine-versus-risperidone-in-children-and-adolescents-with-psychosis-a-meta-analysis-of-randomized-controlled-trials
#7
Lei Xia, Wen-Zheng Li, Huan-Zhong Liu, Rui Hao, Xiang-Yang Zhang
OBJECTIVE: To compare the efficacy and safety of olanzapine and risperidone in children and adolescents (aged ≤18 years) with psychosis by conducting a meta-analysis of randomized controlled trials (RCTs). METHODS: Several English and Chinese databases were searched for studies published before February 8th, 2017. Two independent investigators screened the studies according to prespecified criteria and extracted the data. Review Manager 5.3 was used to conduct the data synthesis...
January 22, 2018: Journal of Child and Adolescent Psychopharmacology
https://www.readbyqxmd.com/read/29296622/relationships-between-grip-strength-myotonia-and-ctg-expansion-in-myotonic-dystrophy-type-1
#8
Jean-Yves Hogrel, Gwenn Ollivier, Isabelle Ledoux, Luc J Hébert, Bruno Eymard, Jack Puymirat, Guillaume Bassez
In myotonic dystrophy type 1, several studies have suggested causal relationships between CTG repeat length and the severity of symptoms, such as weakness or myotonia. We aimed to explore these relationships in a large population of 144 DM1 patients. All patients underwent clinical and functional assessments using a standardized test for grip strength and myotonia assessment. Myotonia was assessed using a fully automatic software based on mathematical modeling of relaxation force curve. CTG repeat length was statistically correlated with both myotonia and grip strength, which are two major primary neuromuscular symptoms of DM1 patients...
December 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29246312/crispr-cas9-mediated-deletion-of-ctg-expansions-recovers-normal-phenotype-in-myogenic-cells-derived-from-myotonic-dystrophy-1-patients
#9
Claudia Provenzano, Marisa Cappella, Rea Valaperta, Rosanna Cardani, Giovanni Meola, Fabio Martelli, Beatrice Cardinali, Germana Falcone
Myotonic dystrophy type 1 (DM1) is the most common adult-onset muscular dystrophy, characterized by progressive myopathy, myotonia, and multi-organ involvement. This dystrophy is an inherited autosomal dominant disease caused by a (CTG)n expansion within the 3' untranslated region of the DMPK gene. Expression of the mutated gene results in production of toxic transcripts that aggregate as nuclear foci and sequester RNA-binding proteins, resulting in mis-splicing of several transcripts, defective translation, and microRNA dysregulation...
December 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/29184538/circulating-irisin-is-reduced-in-male-patients-with-type-1-and-type-2-myotonic-dystrophies
#10
Elena Dozio, Elena Passeri, Rosanna Cardani, Stefano Benedini, Carmen Aresta, Rea Valaperta, Massimiliano Corsi Romanelli, Giovanni Meola, Valeria Sansone, Sabrina Corbetta
Context: Myotonic dystrophies (DM) are dominantly inherited muscle disorders characterized by myotonia, muscle weakness, and wasting. The reasons for sarcopenia in DMs are uncleared and multiple factors are involved. Irisin, a positive hormone regulator of muscle growth and bone, may play a role. Objectives: To investigate (1) circulating irisin in a series of DM1 and DM2 male patients compared with healthy controls and (2) the relationships between irisin and anthropometric, metabolic and hormonal parameters...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29166669/frequency-of-five-disease-causing-genetic-mutations-in-a-large-mixed-breed-dog-population-2011-2012
#11
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/29160548/botulinum-toxin-for-treating-unilateral-apraxia-of-eyelid-opening-in-a-patient-with-congenital-myotonia
#12
Estrella Fernández, Marta Latasiewicz, Laura Pelegrin, Manuel Romera, Silvana Schellini, Alicia Galindo-Ferreiro
A 37-year-old female presented with severe apraxia of lid opening (ALO) affecting the right upper lid associated with Becker congenital myotonia (MC). The patient had a history of right upper lid ptosis for 25 years that was exacerbated over the previous month with severe incapacity to open her right eye. No other associated neurological or ophthalmic symptoms were observed. The patient was treated with botulinum toxin (BoNT-A) injection into the pretarsal and lateral canthus region of the orbicularis oculi of the affected eyelid...
September 2017: Arquivos Brasileiros de Oftalmologia
https://www.readbyqxmd.com/read/29111379/a-scn4a-mutation-causing-paramyotonia-congenita
#13
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...
September 25, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29105112/dynamin-2-associated-myopathy-with-electrical-but-not-clinical-myotonia
#14
Amro M Stino, Stanley J Iyadurai
No abstract text is available yet for this article.
November 3, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/29088983/what-the-internist-should-know-about-hereditary-muscle-channelopathies
#15
Véronique Bissay, Sophie C H Van Malderen
OBJECTIVES: Non-dystrophic myotonia, periodic paralysis and, to a certain extent, myotonic dystrophies are rare hereditary skeletal muscle channelopathies, charactarized by myotonia or episodic muscle weakness. This review highlights the diagnostic challenges and treatment options. RESULTS: Some of these rare skeletal muscle disorders are associated with a broad range of systemic and nonspecific muscle symptoms. Consequently, patients are often referred to the internist before seeing a neurologist...
October 31, 2017: Acta Clinica Belgica
https://www.readbyqxmd.com/read/29056323/impeding-transcription-of-expanded-microsatellite-repeats-by-deactivated-cas9
#16
Belinda S Pinto, Tanvi Saxena, Ruan Oliveira, Héctor R Méndez-Gómez, John D Cleary, Lance T Denes, Ona McConnell, Juan Arboleda, Guangbin Xia, Maurice S Swanson, Eric T Wang
Transcription of expanded microsatellite repeats is associated with multiple human diseases, including myotonic dystrophy, Fuchs endothelial corneal dystrophy, and C9orf72-ALS/FTD. Reducing production of RNA and proteins arising from these expanded loci holds therapeutic benefit. Here, we tested the hypothesis that deactivated Cas9 enzyme impedes transcription across expanded microsatellites. We observed a repeat length-, PAM-, and strand-dependent reduction of repeat-containing RNAs upon targeting dCas9 directly to repeat sequences; targeting the non-template strand was more effective...
November 2, 2017: Molecular Cell
https://www.readbyqxmd.com/read/29050397/the-antimyotonic-effect-of-lamotrigine-in-non-dystrophic-myotonias-a-double-blind-randomized-study
#17
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/29048924/de-novo-mutation-in-cacna1s-gene-in-a-20-year-old-man-diagnosed-with-metabolic-myopathy
#18
Masoud Edizadeh, Raheleh Vazehan, Fatemeh Javadi, Shima Dehdahsi, Mahsa Fadaee, Mehrshid Faraji Zonooz, Elham Parsimehr, Fatemeh Ahangari, Ayda Abolhassani, Zahra Kalhor, Zohreh Fattahi, Maryam Beheshtian, Ariana Kariminejad, Mohammad Reza Akbari, Hossein Najmabadi, Shahriar Nafissi
The calcium channel, voltage-dependent, L-type, alpha 1S subunit (CACNA1S) gene encodes a skeletal Ca2+ channel which is involved in calcium-dependent processes such as muscle contraction and neurotransmitter release. Mutations in this gene have been accompanied by hypo- and normokalemic periodic paralysis, thyrotoxic periodic paralysis, and susceptibility to malignant hyperthermia. We report the clinical and genetic findings in a patient diagnosed with metabolic myopathy who had episodic attacks of muscle pain and weakness but with no family background of the disease...
September 2017: Archives of Iranian Medicine
https://www.readbyqxmd.com/read/28993909/coexistence-of-clcn1-and-scn4a-mutations-in-one-family-suffering-from-myotonia
#19
Lorenzo Maggi, Sabrina Ravaglia, Alessandro Farinato, Raffaella Brugnoni, Concetta Altamura, Paola Imbrici, Diana Conte Camerino, Alessandro Padovani, Renato Mantegazza, Pia Bernasconi, Jean-François Desaphy, Massimiliano Filosto
Non-dystrophic myotonias are characterized by clinical overlap making it challenging to establish genotype-phenotype correlations. We report clinical and electrophysiological findings in a girl and her father concomitantly harbouring single heterozygous mutations in SCN4A and CLCN1 genes. Functional characterization of N1297S hNav1.4 mutant was performed by patch clamp. The patients displayed a mild phenotype, mostly resembling a sodium channel myotonia. The CLCN1 c.501C>G (p.F167L) mutation has been already described in recessive pedigrees, whereas the SCN4A c...
October 9, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28940424/n1366s-mutation-of-human-skeletal-muscle-sodium-channel-causes-paramyotonia-congenita
#20
Qing Ke, Jia Ye, Siyang Tang, Jin Wang, Benyan Luo, Fang Ji, Xu Zhang, Ye Yu, Xiaoyang Cheng, Yuezhou Li
KEY POINTS: Paramyotonia congenita is a hereditary channelopathy caused by missense mutations in the SCN4A gene, which encodes the α subunit of the human skeletal muscle voltage-gated sodium channel NaV1.4. Affected individuals suffered from myotonia and paralysis of muscles, which were aggravated by exposure to cold. We report a three-generation Chinese family with patients presenting paramyotonia congenita and identify a novel N1366S mutation of NaV1.4. Whole-cell electrophysiological recordings of the N1366S channel reveal a gain-of-function change of gating in response to cold...
November 15, 2017: Journal of Physiology
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