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Congenital myasthenic syndrome

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https://www.readbyqxmd.com/read/28072465/splicing-regulation-and-dysregulation-of-cholinergic-genes-expressed-at-the-neuromuscular-junction
#1
REVIEW
Kinji Ohno, Mohammad Alinoor Rahman, Mohammad Nazim, Farhana Nasrin, Yingni Lin, Jun-Ichi Takeda, Akio Masuda
We humans have evolved by acquiring diversity of alternative RNA metabolisms including alternative means of splicing and transcribing non-coding genes, and not by acquiring new coding genes. Tissue-specific and developmental stage-specific alternative RNA splicing is achieved by tightly regulated spatiotemporal regulation of expressions and activations of RNA-binding proteins that recognize their cognate splicing cis-elements on nascent RNA transcripts. Genes expressed at the neuromuscular junction (NMJ) are also alternatively spliced...
January 10, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28042994/assessing-neuromuscular-junction-stability-from-stimulated-emg-in-children
#2
Matthew C Pitt, John C Mchugh, Jacquie Deeb, Ralph A Smith
OBJECTIVE: We present our 9-year experience of stimulated EMG potential analysis using concentric electrodes (SPACE) to evaluate neuromuscular junction (NMJ) disorders in awake children. The technique uses high frequency filtration of stimulated motor unit potentials and applies peak detection software to estimate mean consecutive difference (MCD). METHODS: SPACE was carried out in orbicularis oculi of 878 children (377 girls; median age 47months) between 2007 and 2015, stimulating the facial nerve with a monopolar cathode...
December 3, 2016: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28024842/congenital-myasthenic-syndrome-in-israel-genetic-and-clinical-characterization
#3
Sharon Aharoni, Menachem Sadeh, Yehuda Shapira, Simon Edvardson, Muhannad Daana, Talia Dor-Wollman, Aviva Mimouni-Bloch, Ayelet Halevy, Rony Cohen, Liora Sagie, Zohar Argov, Malcolm Rabie, Ronen Spiegel, Ilana Chervinsky, Naama Orenstein, Andrew G Engel, Yoram Nevo
The objective of the study was to evaluate the epidemiology of patients with congenital myasthenic syndrome (CMS) in Israel. Targeted mutation analysis was performed based on the clinical symptoms and electrophysiological findings for known CMS. Additional specific tests were performed in patients of Iranian and/or Iraqi Jewish origin. All medical records were reviewed and clinical data, genetic mutations and outcomes were recorded. Forty-five patients with genetic mutations in known CMS genes from 35 families were identified...
November 24, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27966543/limb-girdle-myasthenia-with-digenic-rapsn-and-a-novel-disease-gene-ak9-mutations
#4
Ching-Wan Lam, Ka-Sing Wong, Ho-Wan Leung, Chun-Yiu Law
Though dysfunction of neuromuscular junction (NMJ) is associated with congenital myasthenic syndrome (CMS), the proteins involved in neuromuscular transmission have not been completely identified. In this study, we aimed to identify a novel CMS gene in a consanguineous family with limb-girdle type CMS. Homozygosity mapping of the novel CMS gene was performed using high-density single-nucleotide polymorphism microarrays. The variants in CMS gene were identified by whole-exome sequencing (WES) and Sanger sequencing...
December 14, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27941137/tubular-aggregates-and-cylindrical-spirals-have-distinct-immunohistochemical-signatures
#5
Stefen Brady, Estelle G Healy, Qiang Gang, Matt Parton, Ros Quinlivan, Saiju Jacob, Elizabeth Curtis, Safa Al-Sarraj, Caroline A Sewry, Michael G Hanna, Henry Houlden, David Beeson, Janice L Holton
Tubular aggregates and cylindrical spirals are 2 distinct ultrastructural abnormalities observed in muscle biopsies that have similar histochemical staining characteristics on light microscopy. Both are found in a wide range of disorders. Recently, a number of genetic mutations have been reported in conditions with tubular aggregates in skeletal muscle. It is widely accepted that tubular aggregates arise from the sarcoplasmic reticulum, but the origin of cylindrical spirals has been less clearly defined. We describe the histopathological features of myopathies with tubular aggregates, including a detailed immunohistochemical analysis of congenital myasthenic syndromes with tubular aggregates due to mutations in GFPT1 and DPAGT1, and myopathies with cylindrical spirals...
December 2016: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/27874200/two-patients-with-gmppb-mutation-the-overlapping-phenotypes-of-limb-girdle-myasthenic-syndrome-and-lgmd2t-dystroglycanopathy
#6
Federica Montagnese, Elisabeth Klupp, Dimitrios C Karampinos, Saskia Biskup, Dieter Gläser, Jan S Kirschke, Benedikt Schoser
INTRODUCTION: Mutations in the GDP-mannose pyrophosphorylase-B gene (GMPPB) have been identified in congenital muscular dystrophies (CMDs), limb-girdle muscular dystrophy (LGMD2T), and congenital myasthenic syndromes (CMSs); overall, 41 patients have been described. METHODS: Two patients presented with a myasthenic syndrome (patient 1, 74-year-old) and rhabdomyolysis (patient 2, 23-year-old). Examinations included repetitive nerve stimulation, muscle biopsy and whole-body MRI (WBMRI); next generation sequencing facilitated diagnosis...
November 22, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27830186/copy-number-analysis-reveals-a-novel-multiexon-deletion-of-the-colq-gene-in-congenital-myasthenia
#7
Wei Wang, Yanhong Wu, Chen Wang, Jinsong Jiao, Christopher J Klein
Congenital myasthenic syndrome (CMS) is genetically and clinically heterogeneous.(1) Despite a considerable number of causal genes discovered, many patients are left without a specific diagnosis after genetic testing. The presumption is that novel genes yet to be discovered will account for the majority of such patients. However, it is also possible that we are neglecting a type of genetic variation: copy number changes (>50 bp) as causal for some of these patients. Next-generation sequencing (NGS) can simultaneously screen all known causal genes(2) and is increasingly being validated to have a potential to identify copy number changes...
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27779167/a-missense-mutation-in-epsilon-subunit-of-acetylcholine-receptor-causing-autosomal-dominant-slow-channel-congenital-myasthenic-syndrome-in-a-chinese-family
#8
Jia-Ze Tan, Yuan Man, Fei Xiao
BACKGROUND: Congenital myasthenic syndromes are a group of rare disorders that are clinically and genetically heterogeneous and caused by mutations in the genes encoding proteins of the neuromuscular junction. Here, we described a Chinese family that presented with phenotypes of classic slow-channel congenital myasthenic syndrome (SCCMS). METHODS: Clinical characteristics and electrophysiological features of three patients from a Chinese family were examined, and next-generation sequencing followed by direct sequencing was carried out...
2016: Chinese Medical Journal
https://www.readbyqxmd.com/read/27748205/nonlethal-chrna1-related-congenital-myasthenic-syndrome-with-a-homozygous-null-mutation
#9
Osorio Abath Neto, Carlos Otto Heise, Cristiane de Araújo Martins Moreno, Eduardo de Paula Estephan, Lilia Mesrob, Doris Lechner, Anne Boland, Jean-François Deleuze, Acary Souza Bulle Oliveira, Umbertina Conti Reed, Valérie Biancalana, Jocelyn Laporte, Edmar Zanoteli
No abstract text is available yet for this article.
January 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/27717316/a-rare-c-183_187dupctcac-mutation-of-the-acetylcholine-receptor-chrne-gene-in-a-south-asian-female-with-congenital-myasthenic-syndrome-a-case-report
#10
Thashi Chang, Judith Cossins, David Beeson
BACKGROUND: Congenital myasthenic syndromes (CMSs) occur as a result of genetic mutations that cause aberrations in structure and/or function of proteins involved in neuromuscular transmission. Acetylcholine receptor epsilon (ε) subunit (CHRNE) gene mutations account for about 30-50 % of genetically diagnosed cases. We report a rare CHRNE gene mutation in a South Asian female with CMS. CASE PRESENTATION: A 17-year-old Maldivian female presented with bilateral partial ptosis, fatigable proximal muscle weakness and slurring of speech noted since the age of 2 years...
October 7, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27706425/clinical-and-genetic-basis-of-congenital-myasthenic-syndromes
#11
Paulo Victor Sgobbi de Souza, Gabriel Novaes de Rezende Batistella, Valéria Cavalcante Lino, Wladimir Bocca Vieira de Rezende Pinto, Marcelo Annes, Acary Souza Bulle Oliveira
Neuromuscular junction disorders represent a wide group of neurological diseases characterized by weakness, fatigability and variable degrees of appendicular, ocular and bulbar musculature involvement. Its main group of disorders includes autoimmune conditions, such as autoimmune acquired myasthenia gravis and Lambert-Eaton syndrome. However, an important group of diseases include congenital myasthenic syndromes with a genetic and sometimes hereditary basis that resemble and mimick many of the classic myasthenia neurological manifestations, but also have different presentations, which makes them a complex clinical, therapeutic and diagnostic challenge for most clinicians...
September 2016: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/27706415/congenital-myasthenic-syndromes-and-myasthenia-gravis-are-challenging-diagnoses-in-neurological-practice
#12
Anamarli Nucci
No abstract text is available yet for this article.
September 2016: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/27634344/phenotypic-heterogeneity-in-two-large-roma-families-with-a-congenital-myasthenic-syndrome-due-to-chrne-1267delg-mutation-a-long-term-follow-up
#13
D Natera-de Benito, J Domínguez-Carral, N Muelas, A Nascimento, C Ortez, T Jaijo, R Arteaga, J Colomer, J J Vilchez
Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders. Mutations in CHRNE are one of the most common cause of them and the ɛ1267delG frameshifting mutation is described to be present on at least one allele of 60% of patients with CHRNE mutations. We present a comprehensive description of the heterogeneous clinical features of the CMS caused by the homozygous 1267delG mutation in the AChR Ɛ subunit in nine members of two large Gipsy kindreds. Our observations indicate that founder Roma mutation 1267delG leads to a phenotype further characterized by ophthalmoplegia, bilateral ptosis, and good response to pyridostigmine and 3,4-DAP; but also by facial weakness, bulbar symptoms, neck muscle weakness, and proximal limb weakness that sometimes entails the loss of ambulation...
August 15, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27600705/targeted-massively-parallel-sequencing-and-histological-assessment-of-skeletal-muscles-for-the-molecular-diagnosis-of-inherited-muscle-disorders
#14
Atsuko Nishikawa, Satomi Mitsuhashi, Naomasa Miyata, Ichizo Nishino
BACKGROUND: Inherited skeletal muscle diseases are genetically heterogeneous diseases caused by mutations in more than 150 genes. This has made it challenging to establish a high-throughput screening method for identifying causative gene mutations in clinical practice. AIM: In the present study, we developed a useful method for screening gene mutations associated with the pathogenesis of skeletal muscle diseases. METHODS: We established four target gene panels, each covering all exonic and flanking regions of genes involved in the pathogenesis of the following muscle diseases: (1) muscular dystrophy (MD), (2) congenital myopathy/congenital myasthenic syndrome, (3) metabolic myopathy and (4) myopathy with protein aggregations/rimmed vacuoles...
September 6, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27590285/variants-in-slc18a3-vesicular-acetylcholine-transporter-cause-congenital-myasthenic-syndrome
#15
Gina L O'Grady, Corien Verschuuren, Michaela Yuen, Richard Webster, Manoj Menezes, Johanna M Fock, Natalie Pride, Heather A Best, Tatiana Benavides Damm, Christian Turner, Monkol Lek, Andrew G Engel, Kathryn N North, Nigel F Clarke, Daniel G MacArthur, Erik-Jan Kamsteeg, Sandra T Cooper
OBJECTIVE: To describe the clinical and genetic characteristics of presynaptic congenital myasthenic syndrome secondary to biallelic variants in SLC18A3. METHODS: Individuals from 2 families were identified with biallelic variants in SLC18A3, the gene encoding the vesicular acetylcholine transporter (VAChT), through whole-exome sequencing. RESULTS: The patients demonstrated features seen in presynaptic congenital myasthenic syndrome, including ptosis, ophthalmoplegia, fatigable weakness, apneic crises, and deterioration of symptoms in cold water for patient 1...
October 4, 2016: Neurology
https://www.readbyqxmd.com/read/27588369/limb-girdle-congenital-myasthenic-syndrome-in-a-chinese-family-with-novel-mutations-in-musk-gene-and-literature-review
#16
Xinghua Luan, Wotu Tian, Li Cao
OBJECTIVES: To describe the clinical and genetic features of a Chinese congenital myasthenic syndromes (CMS) patient with two novel missense mutations in muscle specific receptor tyrosine kinase (MUSK) gene and review 15 MUSK-related CMS patients from 8 countries. METHODS: The patient was a 30-year-old man with chronic progressively proximal limb weakness for 22 years and diagnosed as muscular dystrophy before. Serum creatine kinase (CK) was normal. Repetitive nerve stimulation (RNS) test showed decrements at low rate stimulation...
November 2016: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/27569547/impaired-presynaptic-high-affinity-choline-transporter-causes-a-congenital-myasthenic-syndrome-with-episodic-apnea
#17
Stéphanie Bauché, Seana O'Regan, Yoshiteru Azuma, Fanny Laffargue, Grace McMacken, Damien Sternberg, Guy Brochier, Céline Buon, Nassima Bouzidi, Ana Topf, Emmanuelle Lacène, Ganaelle Remerand, Anne-Marie Beaufrere, Céline Pebrel-Richard, Julien Thevenon, Salima El Chehadeh-Djebbar, Laurence Faivre, Yannis Duffourd, Federica Ricci, Tiziana Mongini, Chiara Fiorillo, Guja Astrea, Carmen Magdalena Burloiu, Niculina Butoianu, Carmen Sandu, Laurent Servais, Gisèle Bonne, Isabelle Nelson, Isabelle Desguerre, Marie-Christine Nougues, Benoit Bœuf, Norma Romero, Jocelyn Laporte, Anne Boland, Doris Lechner, Jean-François Deleuze, Bertrand Fontaine, Laure Strochlic, Hanns Lochmuller, Bruno Eymard, Michèle Mayer, Sophie Nicole
The neuromuscular junction (NMJ) is one of the best-studied cholinergic synapses. Inherited defects of peripheral neurotransmission result in congenital myasthenic syndromes (CMSs), a clinically and genetically heterogeneous group of rare diseases with fluctuating fatigable muscle weakness as the clinical hallmark. Whole-exome sequencing and Sanger sequencing in six unrelated families identified compound heterozygous and homozygous mutations in SLC5A7 encoding the presynaptic sodium-dependent high-affinity choline transporter 1 (CHT), which is known to be mutated in one dominant form of distal motor neuronopathy (DHMN7A)...
September 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27519468/new-era-in-genetics-of-early-onset-muscle-disease-breakthroughs-and-challenges
#18
Gianina Ravenscroft, Mark R Davis, Phillipa Lamont, Alistair Forrest, Nigel G Laing
Early-onset muscle disease includes three major entities that present generally at or before birth: congenital myopathies, congenital muscular dystrophies and congenital myasthenic syndromes. Almost exclusively there is weakness and hypotonia, although cases manifesting hypertonia are increasingly being recognised. These diseases display a wide phenotypic and genetic heterogeneity, with the uptake of next generation sequencing resulting in an unparalleled extension of the phenotype-genotype correlations and "diagnosis by sequencing" due to unbiased sequencing...
August 9, 2016: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/27472506/congenital-myasthenic-syndromes-recent-advances
#19
David Beeson
PURPOSE OF REVIEW: Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mutations in genes encoding proteins essential for the integrity of neuromuscular transmission. This review updates the reader on recent findings that have expanded the phenotypic spectrum and suggested improved treatment strategies. RECENT FINDINGS: The use of next-generation sequencing is continuing to unearth new genes in which mutations can give rise to defective neuromuscular transmission...
October 2016: Current Opinion in Neurology
https://www.readbyqxmd.com/read/27459095/multiscale-simulations-suggest-a-mechanism-for-the-association-of-the-dok7-ph-domain-with-pip-containing-membranes
#20
Amanda Buyan, Antreas C Kalli, Mark S P Sansom
Dok7 is a peripheral membrane protein that is associated with the MuSK receptor tyrosine kinase. Formation of the Dok7/MuSK/membrane complex is required for the activation of MuSK. This is a key step in the complex exchange of signals between neuron and muscle, which lead to neuromuscular junction formation, dysfunction of which is associated with congenital myasthenic syndromes. The Dok7 structure consists of a Pleckstrin Homology (PH) domain and a Phosphotyrosine Binding (PTB) domain. The mechanism of the Dok7 association with the membrane remains largely unknown...
July 2016: PLoS Computational Biology
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