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Congenital myasthenic syndrome

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https://www.readbyqxmd.com/read/29913539/isolated-prepl-deficiency-associated-with-congenital-myasthenic-syndrome-22
#1
Lucia Laugwitz, Silke Redler, Rebecca Buchert, Marc Sturm, Irene Zeile, Ulrike Schara, Dagmar Wieczorek, Tobias Haack, Felix Distelmaier
No abstract text is available yet for this article.
June 18, 2018: Klinische Pädiatrie
https://www.readbyqxmd.com/read/29905857/gfpt1-deficiency-in-muscle-leads-to-myasthenia-and-myopathy-in-mice
#2
Yasmin Issop, Denisa Hathazi, Muzamil Majid Khan, Rüdiger Rudolf, Joachim Weis, Sally Spendiff, Clarke R Slater, Andreas Roos, Hanns Lochmüller
Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is the rate-limiting enzyme in the hexosamine biosynthetic pathway which yields precursors required for protein and lipid glycosylation. Mutations in GFPT1 and other genes downstream of this pathway cause congenital myasthenic syndrome (CMS) characterised by fatigable muscle weakness due to impaired neurotransmission. The precise pathomechanisms at the neuromuscular junction (NMJ) due to a deficiency in GFPT1 is yet to be discovered. One of the challenges we face is the viability of Gfpt1 -/- knockout mice...
June 14, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29892917/congenital-myasthenic-syndromes-in-2018
#3
REVIEW
Andrew G Engel
PURPOSE OF REVIEW: Summarize features of the currently recognized congenital myasthenic syndromes (CMS) with emphasis on novel findings identified in the past 6 years. RECENT FINDINGS: Since the last review of the CMS in this journal in 2012, several novel CMS were identified. The identified disease proteins are SNAP25B, synaptotagmin 2, Munc13-1, synaptobrevin-1, GFPT1, DPAGT1, ALG2, ALG14, Agrin, GMPPB, LRP4, myosin 9A, collagen 13A1, the mitochondrial citrate carrier, PREPL, LAMA5, the vesicular ACh transporter, and the high-affinity presynaptic choline transporter...
June 12, 2018: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/29874875/the-neuromuscular-junction-and-wide-heterogeneity-of-congenital-myasthenic-syndromes
#4
REVIEW
Pedro M Rodríguez Cruz, Jacqueline Palace, David Beeson
Congenital myasthenic syndromes (CMS) are genetic disorders characterised by impaired neuromuscular transmission. This review provides an overview on CMS and highlights recent advances in the field, including novel CMS causative genes and improved therapeutic strategies. CMS due to mutations in SLC5A7 and SLC18A3 , impairing the synthesis and recycling of acetylcholine, have recently been described. In addition, a novel group of CMS due to mutations in SNAP25B , SYT2 , VAMP1 , and UNC13A1 encoding molecules implicated in synaptic vesicles exocytosis has been characterised...
June 5, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29865088/beta-2-adrenergic-receptor-agonists-enhance-achr-clustering-in-c2c12-myotubes-implications-for-therapy-of-myasthenic-disorders
#5
Lisa Clausen, Judith Cossins, David Beeson
BACKGROUND: Congenital myasthenic syndromes (CMS) are a group of inherited neuromuscular transmission disorders causing fatiguable muscle weakness. ADRB2 agonists have been observed to provide therapeutic benefit where destabilisation of NMJ structures is part of the underlying pathology, such as in DOK7, COLQ and MuSK CMS as well as in slow channel syndrome. However, very little is known about the molecular mechanisms underlying the effects of ADRB2 agonists in CMS. OBJECTIVE: In vitro investigation into whether an ADRB2 agonist affects the AChR clustering pathway and has the potential to increase the number and stability of AChR clusters...
2018: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29783273/clinical-and-genetic-features-of-congenital-myasthenic-syndromes-due-to-chat-mutations-case-report-and-literature-review
#6
Pinar Arican, Pinar Gencpinar, Dilek Cavusoglu, Nihal Olgac Dundar
Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. CMS due to choline acetyltransferase (CHAT) gene is characterized by episodic apnea. We report a case of a 12-month-old female patient presented with recurrent episodic apnea carrying a mutation in CHAT gene, p.I336T. Furthermore, we describe the genetic and clinical findings in 44 CMS patients due to CHAT mutations in the literature up to date. Episodes of apnea and respiratory insufficiency are the hallmarks of CHAT mutations...
May 21, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29710836/animal-models-of-the-neuromuscular-junction-vitally-informative-for-understanding-function-and-the-molecular-mechanisms-of-congenital-myasthenic-syndromes
#7
REVIEW
Richard G Webster
The neuromuscular junction is the point of contact between motor nerve and skeletal muscle, its vital role in muscle function is reliant on the precise location and function of many proteins. Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders of neuromuscular transmission with 30 or more implicated proteins. The use of animal models has been instrumental in determining the specific role of many CMS-related proteins. The mouse neuromuscular junction (NMJ) has been extensively studied in animal models of CMS due to its amenability for detailed electrophysiological and histological investigations and relative similarity to human NMJ...
April 29, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29704306/recessive-variants-of-musk-are-associated-with-late-onset-cms-and-predominant-limb-girdle-weakness
#8
David Owen, Ana Töpf, Veeramani Preethish-Kumar, Paulo José Lorenzoni, Bas Vroling, Rosana Herminia Scola, Elza Dias-Tosta, Argemiro Geraldo, Kiran Polavarapu, Saraswati Nashi, Daniel Cox, Teresinha Evangelista, John Dawson, Rachel Thompson, Jan Senderek, Steven Laurie, Sergi Beltran, Marta Gut, Ivo Gut, Atchayaram Nalini, Hanns Lochmüller
Congenital myasthenic syndrome (CMS) is a heterogeneous disorder that causes fatigable muscle weakness. CMS has been associated with variants in the MuSK gene and, to date, 16 patients have been reported. MuSK-CMS patients present a different phenotypic pattern of limb girdle weakness. Here, we describe four additional patients and discuss the phenotypic and clinical relationship with those previously reported. Two novel damaging missense variants are described: c.1742T > A; p.I581N found in homozygosis, and c...
April 28, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29702980/chrne-compound-heterozygous-mutations-in-congenital-myasthenic-syndrome-a-case-report
#9
Kunfang Yang, Hongyi Cheng, Fang Yuan, Linyi Meng, Rongrong Yin, Yuanfeng Zhang, Simei Wang, Chunmei Wang, Yanfen Lu, Jiaming Xi, Qin Lu, Yucai Chen
RATIONALE: Congenital myasthenic syndrome (CMSs) are a group of rare genetic disorders of the neurological junction, which can result in structural or functional weakness. Here, we characterized a case of CMS in order to clarify the diagnosis and expand the understanding of it. The molecular diagnosis had implications for choice of treatment and genetic counseling. PATIENT CONCERNS: A 3-year-old male patient with CMS had ptosis and limb weakness for 2 months after birth...
April 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29700358/premyogenic-progenitors-derived-from-human-pluripotent-stem-cells-expand-in-floating-culture-and-differentiate-into-transplantable-myogenic-progenitors
#10
Fusako Sakai-Takemura, Asako Narita, Satoru Masuda, Toshifumi Wakamatsu, Nobuharu Watanabe, Takashi Nishiyama, Ken'ichiro Nogami, Matthias Blanc, Shin'ichi Takeda, Yuko Miyagoe-Suzuki
Human induced pluripotent stem cells (hiPSCs) are a potential source for cell therapy of Duchenne muscular dystrophy. To reliably obtain skeletal muscle progenitors from hiPSCs, we treated hiPS cells with a Wnt activator, CHIR-99021 and a BMP receptor inhibitor, LDN-193189, and then induced skeletal muscle cells using a previously reported sphere-based culture. This protocol greatly improved sphere formation efficiency and stably induced the differentiation of myogenic cells from hiPS cells generated from both healthy donors and a patient with congenital myasthenic syndrome...
April 26, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29696584/how-to-spot-congenital-myasthenic-syndromes-resembling-the-lambert-eaton-myasthenic-syndrome-a-brief-review-of-clinical-electrophysiological-and-genetics-features
#11
REVIEW
Paulo José Lorenzoni, Rosana Herminia Scola, Claudia Suemi Kamoi Kay, Lineu Cesar Werneck, Rita Horvath, Hanns Lochmüller
Congenital myasthenic syndromes (CMS) are heterogeneous genetic diseases in which neuromuscular transmission is compromised. CMS resembling the Lambert-Eaton myasthenic syndrome (CMS-LEMS) are emerging as a rare group of distinct presynaptic CMS that share the same electrophysiological features. They have low compound muscular action potential amplitude that increment after brief exercise (facilitation) or high-frequency repetitive nerve stimulation. Although clinical signs similar to LEMS can be present, the main hallmark is the electrophysiological findings, which are identical to autoimmune LEMS...
June 2018: Neuromolecular Medicine
https://www.readbyqxmd.com/read/29671051/update-on-muscle-disease
#12
J Witherick, S Brady
In this article, we highlight some of the most important developments from the last few years in the field of muscle diseases, including new additions to the congenital myasthenic syndromes (CMS) and limb-girdle muscular dystrophies (LGMD), advances in our understanding of the pathophysiology of certain muscle disorders and progress in diagnostics and therapeutics. Unsurprisingly, the most prominent developments have come from the field of genetics, with significant advances in diagnosis and gene therapy giving hope to those with hitherto untreatable conditions...
April 18, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29663639/a-novel-ecel1-mutation-expands-the-phenotype-of-distal-arthrogryposis-multiplex-congenita-type-5d-to-include-pretibial-vertical-skin-creases
#13
Eva-Lena Stattin, Josefin Johansson, Sanna Gudmundsson, Adam Ameur, Staffan Lundberg, Marie-Louise Bondeson, Maria Wilbe
Arthrogryposis multiplex congenita (AMC) is a heterogeneous disorder characterized by multiple joint contractures often in association with other congenital abnormalities. Pretibial linear vertical creases are a rare finding associated with arthrogryposis, and the etiology of the specific condition is unknown. We aimed to genetically and clinically characterize a boy from a consanguineous family, presenting with AMC and pretibial vertical linear creases on the shins. Whole exome sequencing and variant analysis revealed homozygous novel missense variants of ECEL1 (c...
June 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29655455/congenital-myasthenic-syndromes
#14
REVIEW
Perry B Shieh, Shin J Oh
The congenital myasthenic syndromes (CMS) are a group of rare genetic conditions characterized by abnormal neuromuscular transmission. Typically, these conditions have been the result of a dysfunctional protein that is present in the presynaptic terminal, the synaptic cleft, or the postsynaptic terminal. Many of these syndromes present within the first few years of life with fluctuating and fatiguable weakness in a distribution similar to myasthenia gravis, although a limb-girdle distribution and late onset are also seen in certain specific types of CMS...
May 2018: Neurologic Clinics
https://www.readbyqxmd.com/read/29626165/collagen-xiii-is-required-for-neuromuscular-synapse-regeneration-and-functional-recovery-after-peripheral-nerve-injury
#15
Zarin Zainul, Anne Heikkinen, Hennariikka Koivisto, Iina Rautalahti, Mika Kallio, Shuo Lin, Heli Härönen, Oula Norman, Markus A Rüegg, Heikki Tanila, Taina Pihlajaniemi
Collagen XIII occurs as both a transmembrane-bound and a shed extracellular protein and is able to regulate the formation and function of neuromuscular synapses. Its absence results in myasthenia: presynaptic and postsynaptic defects at the neuromuscular junction (NMJ), leading to destabilization of the motor nerves, muscle regeneration and atrophy. Mutations in COL13A1 have recently been found to cause congenital myasthenic syndrome, characterized by fatigue and chronic muscle weakness, which may be lethal...
April 25, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29605429/dysfunction-of-nav1-4-a-skeletal-muscle-voltage-gated-sodium-channel-in-sudden-infant-death-syndrome-a-case-control-study
#16
Roope Männikkö, Leonie Wong, David J Tester, Michael G Thor, Richa Sud, Dimitri M Kullmann, Mary G Sweeney, Costin Leu, Sanjay M Sisodiya, David R FitzPatrick, Margaret J Evans, Iona J M Jeffrey, Jacob Tfelt-Hansen, Marta C Cohen, Peter J Fleming, Amie Jaye, Michael A Simpson, Michael J Ackerman, Michael G Hanna, Elijah R Behr, Emma Matthews
BACKGROUND: Sudden infant death syndrome (SIDS) is the leading cause of post-neonatal infant death in high-income countries. Central respiratory system dysfunction seems to contribute to these deaths. Excitation that drives contraction of skeletal respiratory muscles is controlled by the sodium channel NaV1.4, which is encoded by the gene SCN4A. Variants in NaV1.4 that directly alter skeletal muscle excitability can cause myotonia, periodic paralysis, congenital myopathy, and myasthenic syndrome...
April 14, 2018: Lancet
https://www.readbyqxmd.com/read/29597332/makaluvamine-g-from-the-marine-sponge-zyzzia-fuliginosa-inhibits-muscle-nachr-by-binding-at-the-orthosteric-and-allosteric-sites
#17
Denis S Kudryavtsev, Ekaterina N Spirova, Irina V Shelukhina, Lina V Son, Yana V Makarova, Natalia K Utkina, Igor E Kasheverov, Victor I Tsetlin
Diverse ligands of the muscle nicotinic acetylcholine receptor (nAChR) are used as muscle relaxants during surgery. Although a plethora of such molecules exists in the market, there is still a need for new drugs with rapid on/off-set, increased selectivity, and so forth. We found that pyrroloiminoquinone alkaloid Makaluvamine G (MG) inhibits several subtypes of nicotinic receptors and ionotropic γ-aminobutiric acid receptors, showing a higher affinity and moderate selectivity toward muscle nAChR. The action of MG on the latter was studied by a combination of electrophysiology, radioligand assay, fluorescent microscopy, and computer modeling...
March 28, 2018: Marine Drugs
https://www.readbyqxmd.com/read/29497086/an-allosteric-link-connecting-the-lipid-protein-interface-to-the-gating-of-the-nicotinic-acetylcholine-receptor
#18
Jaimee A Domville, John E Baenziger
The mechanisms underlying lipid-sensing by membrane proteins is of considerable biological importance. A unifying mechanistic question is how a change in structure at the lipid-protein interface is translated through the transmembrane domain to influence structures critical to protein function. Gating of the nicotinic acetylcholine receptor (nAChR) is sensitive to its lipid environment. To understand how changes at the lipid-protein interface influence gating, we examined how a mutation at position 418 on the lipid-facing surface of the outer most M4 transmembrane α-helix alters the energetic couplings between M4 and the remainder of the transmembrane domain...
March 1, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29483676/the-second-point-mutation-in-prepl-a-case-report-and-literature-review
#19
Sebastian Silva, Noriko Miyake, Carolina Tapia, Naomichi Matsumoto
Prolyl endopeptidase-like (PREPL) deficiency (MIM# 616224) is a rare autosomal recessive inherited congenital myasthenic syndrome characterized by neonatal hypotonia, feeding problems, mild dysmorphism, and neuromuscular symptoms, followed by hyperphagia and obesity in later childhood. Some patients also exhibit growth deficits, sexual hormone deficiency, and cognitive impairments. This syndrome is caused by biallelic mutations in PREPL. To date, only one nucleotide deletion and seven small microdeletions in PREPL have been reported...
May 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29478601/genetic-basis-and-phenotypic-features-of-congenital-myasthenic-syndromes
#20
Andrew G Engel
The congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety margin of neuromuscular transmission is compromised by one or more specific mechanisms. The disease proteins reside in the nerve terminal, the synaptic basal lamina, or in the postsynaptic region, or at multiple sites at the neuromuscular junction as well as in other tissues. Targeted mutation analysis by Sanger or exome sequencing has been facilitated by characteristic phenotypic features of some CMS. No fewer than 20 disease genes have been recognized to date...
2018: Handbook of Clinical Neurology
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