Relevant bibliographies by topics / Muscle-Specific Kinase (MuSK)

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers

Academic literature on the topic 'Muscle-Specific Kinase (MuSK)'

Author: Grafiati
Published: 25 May 2024

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Journal articles on the topic "Muscle-Specific Kinase (MuSK)"

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Bromann, P. A., H. Zhou, and J. R. Sanes. "Kinase- and rapsyn-independent activities of the muscle-specific kinase (MuSK)." Neuroscience 125, no. 2 (January 2004): 417–26. http://dx.doi.org/10.1016/j.neuroscience.2003.12.031.

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Moon, So-Young, Sang-Soo Lee, and Yoon-Ho Hong. "Muscle atrophy in muscle-specific tyrosine kinase (MuSK)-related myasthenia gravis." Journal of Clinical Neuroscience 18, no. 9 (September 2011): 1274–75. http://dx.doi.org/10.1016/j.jocn.2011.01.010.

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Sander, Andreas, Boris A. Hesser, and Veit Witzemann. "MuSK induces in vivo acetylcholine receptor clusters in a ligand-independent manner." Journal of Cell Biology 155, no. 7 (December 17, 2001): 1287–96. http://dx.doi.org/10.1083/jcb.200105034.

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Muscle-specific receptor tyrosine kinase (MuSK) is required for the formation of the neuromuscular junction. Using direct gene transfer into single fibers, MuSK was expressed extrasynaptically in innervated rat muscle in vivo to identify its contribution to synapse formation. Spontaneous MuSK kinase activity leads, in the absence of its putative ligand neural agrin, to the appearance of ϵ-subunit–specific transcripts, the formation of acetylcholine receptor clusters, and acetylcholinesterase aggregates. Expression of kinase-inactive MuSK did not result in the formation of acetylcholine receptor (AChR) clusters, whereas a mutant MuSK lacking the ectodomain did induce AChR clusters. The contribution of endogenous MuSK was excluded by using genetically altered mice, where the kinase domain of the MuSK gene was flanked by loxP sequences and could be deleted upon expression of Cre recombinase. This allowed the conditional inactivation of endogenous MuSK in single muscle fibers and prevented the induction of ectopic AChR clusters. Thus, the kinase activity of MuSK initiates signals that are sufficient to induce the formation of AChR clusters. This process does not require additional determinants located in the ectodomain.
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Koneczny, Inga, Judith Cossins, and Angela Vincent. "The role of muscle-specific tyrosine kinase (MuSK) and mystery of MuSK myasthenia gravis." Journal of Anatomy 224, no. 1 (March 4, 2013): 29–35. http://dx.doi.org/10.1111/joa.12034.

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Fuhrer, C. "Association of muscle-specific kinase MuSK with the acetylcholine receptor in mammalian muscle." EMBO Journal 16, no. 16 (August 15, 1997): 4951–60. http://dx.doi.org/10.1093/emboj/16.16.4951.

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Strochlic, Laure, Annie Cartaud, and Jean Cartaud. "The synaptic muscle-specific kinase (MuSK) complex: New partners, new functions." BioEssays 27, no. 11 (2005): 1129–35. http://dx.doi.org/10.1002/bies.20305.

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Ali, Hassam, Rahul Pamarthy, Nayab Ahsan, WashmaAwan, and Shiza Sarfraz. "Muscle-Specific Tyrosine Kinase-Associated Myasthenia Gravis: A Neuromuscular Surprise." Case Reports in Neurological Medicine 2021 (December 28, 2021): 1–3. http://dx.doi.org/10.1155/2021/1326442.

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Myasthenia gravis is a neuromuscular autoimmune disease that results in skeletal muscle weakness that worsens after periods of activity and improves after rest. Myasthenia gravis means “grave (serious), muscle weakness.” Although not completely curable, it can be managed well with a relatively high quality of life and expectancy. In myasthenia gravis, antibodies against the acetylcholine receptors at the neuromuscular junction interfere with regular muscular contraction. Although most commonly caused by antibodies to the acetylcholine receptor, antibodies against MuSK (muscle-specific kinase) protein can also weaken transmission at the neuromuscular junction. Muscle-specific tyrosine kinase myasthenia gravis (MuSK-Ab MG) is a rare subtype of myasthenia gravis with distinct pathogenesis and unique clinical features. Diagnosis can be challenging due to its atypical presentation as compared to seropositive myasthenia gravis. It responds inconsistently to steroids, but plasma exchange and immunosuppressive therapies have shown promising results. We report a case of a 49-year-old female who presented with acute hypoxic respiratory failure. Our patient experienced progressive, undiagnosed MuSK-Ab MG for years without a diagnosis.
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Oh, Jeeyoung, Woo Ick Yang, Jeong Hoon Cho, and Il Nam Sunwoo. "Muscle-specific receptor tyrosine kinase (MuSK) myasthenia gravis associated with castleman disease." Annals of Clinical Neurophysiology 19, no. 1 (2017): 74. http://dx.doi.org/10.14253/acn.2017.19.1.74.

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Atassi, Nazem, and Anthony A. Amato. "Muscle-specific kinase (MuSK) antibody-associated myasthenia gravis after bone marrow transplantation." Muscle & Nerve 38, no. 2 (August 2008): 1074–75. http://dx.doi.org/10.1002/mus.21023.

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Benrhouma, Hanene, Hedia Klaa, Rania Ben Aoun, Aida Rouissi, Melika Ben Ahmed, Ichraf Kraoua, Ilhem Ben Youssef-Turki, and Thouraya Ben Younes. "Muscle-Specific Kinase Autoimmune Myasthenia Gravis: Report of a Pediatric Case and Literature Review." Neuropediatrics 50, no. 02 (December 21, 2018): 116–21. http://dx.doi.org/10.1055/s-0038-1676514.

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AbstractMyasthenia gravis (MG) with antibodies to the muscle-specific tyrosine kinase (MuSK-MG) receptor is a rare entity. It represents 5 to 8% of all MG patients. Few pediatric cases were reported. Clinical presentation is often atypical. It is characterized by predominant involvement of cranial, bulbar, and axial muscles and early respiratory crises. Myokymia and fasciculation are suggestive of MuSK-MG. The clinical course of patients with MuSK-MG is worse than other types of MG. Responses to standard therapies are variable. We report clinical, neurophysiological, serological, and outcome profile of a Tunisian child with MuSK-MG.
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Dissertations / Theses on the topic "Muscle-Specific Kinase (MuSK)"

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Khan, Muhammad Amir. "MuSK, a previously known muscle specific receptor tyrosine kinase is expressed in retinal astrocytes and interacting with Erbin." [S.l.] : [s.n.], 2006. http://deposit.ddb.de/cgi-bin/dokserv?idn=982483279.

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Boëx, Myriam. "Implication d’une nouvelle voie de signalisation médiée par le complexe MuSK/Vangl2 dans la connectivité neuromusculaire." Electronic Thesis or Diss., Sorbonne université, 2020. https://accesdistant.sorbonne-universite.fr/login?url=https://theses-intra.sorbonne-universite.fr/2020SORUS258.pdf.

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Le contact anatomique et fonctionnel qui s’établit entre la terminaison axonale d’un motoneurone et une région spécialisée de la fibre musculaire striée squelettique est appelé jonction neuromusculaire (JNM). Le développement de la synapse neuromusculaire périphérique implique une communication dynamique via divers processus de signalisation réciproques entre les motoneurones et leurs cibles musculaires. Parmi les facteurs sécrétés qui orchestrent cette coordination trans-synaptique, les morphogènes Wnt constituent des signaux critiques pour la différenciation synaptique, cependant les mécanismes moléculaires qui sous-tendent l’action des Wnt à la JNM des mammifères restent encore largement inconnus et controversés. Mon travail de thèse a porté sur 1) la validation du rôle critique des signalisations Wnt médiées par le récepteur muscle spécifique MuSK in vivo et 2) l’étude de la voie de signalisation Wnt de polarité cellulaire planaire (PCP) dans la mise en place et la maintenance de la JNM des mammifères. Notre équipe a récemment montré qu’un effecteur principal de cette voie PCP, nommé Van Gogh-like protein 2 (Vangl2) est enrichi à la JNM, à la fois dans les compartiments pré- et postsynaptique et que Vangl2 est capable de lier certains ligands Wnt. J’ai montré que la protéine Vangl2 musculaire joue un rôle critique dans le développement et le maintien de l’intégrité de la synapse neuromusculaire en contrôlant le niveau d’activité de la signalisation MuSK. L’ensemble de mes résultats a révélé l’existence d’une nouvelle voie de signalisation Wnt PCP dans le muscle, reposant sur l'interaction Vangl2/MuSK, impliquée dans l’assemblage et l’intégrité postsynaptique
The neuromuscular junction (JNM) is a peripheral synapse formed by the anatomic and functional contact between a motor neuron and a striated skeletal muscle fiber. NMJ development requires a dynamic communication between motor axons and their muscle targets through several reciprocal signaling. Among the limited number of secreted factors that orchestrate this trans-synaptic coordination, the Wnts diffusible cues have emerged as critical signals for synaptic differentiation, yet how Wnt signaling drives NMJ formation and maintenance remain poorly understood and controversial in mammals. In this context, the aims of my PhD project were 1) to validate the functional role of Wnt-MuSK interaction in vivo and 2) to study the Wnt Planar Cell Polarity (PCP) pathway during NMJ assembly and maintenance in mammals. Interestingly, our team showed that Van Gogh-like protein 2 (Vangl2), a core PCP component, is accumulated at developing NMJ, at both pre- and postsynaptic sites. Moreover, Vangl2 interacts with a subset of Wnt morphogens that are secreted at the NMJ suggesting that a Wnt/Vangl2-PCP signaling is involved in NMJ development. By using a set of mutant mice along with a large panel of cell biological and biochemical assays, I found that muscle Vangl2 is critical for NMJ assembly and maintenance, by controlling the level of MuSK signaling activity. Collectively, my results uncover a new Wnt/PCP signaling in the muscle, relying on Vangl2/MuSK interaction that shapes neuromuscular connectivity by regulating postsynaptic assembly and integrity
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Ferreira, de Almeida Guerra Manuel. "Régulation de l' épissage alternatif chez les mammifères : exemple de l' ARN pré-messager de l' acétylcholinestérase dans la physiologie musculaire." Paris 7, 2005. http://www.theses.fr/2005PA077019.

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L' épissage alternatif des ARN prémessagers est un mécanisme important de diversification des protéines codées par un même gène chez les eucaryotes supérieurs. Je m’intéresse à l’épissage du transcrit codant l’acétylcholinestérase (AChE), une enzyme hydrolysant l’acétylcholine en acétate et choline. Celle-ci est essentielle au contrôle de la neurotransmission cholinergique notamment au niveau de la jonction neuromusculaire. Le gène de l’AChE possède 5 exons codants dont les trois situés en 5’ codent le domaine N-terminal de l’enzyme suffisant à une activité catalytique normale. L’extrémité 3’ de l’ARN prémessager contenant les exons 5 et 6 est épissée alternativement. Dans les neurones et les muscles, l’extrémité C-terminale de l’AChE est codée par l’exon 6. Cette extrémité permet en interagissant avec des protéines spécifiques, d’ancrer l’AChE sur des régions spécialisées de la lame basale ou de la membrane plasmique. Dans les cellules erythroblastiques et lymphocytaires, l’ARN prémessager de l’AChE est épissé différemment et l’extrémité C-terminale de l’enzyme est alors codée par l’exon 5. Ceci permet un ancrage diffus de l’enzyme sur la membrane plasmique par l’intermédiaire d’un GPI. Ces deux formes, musculaires et lymphocytaires, du messager et de l’enzyme sont appelées respectivement forme T (pour tailed) et forme H (pour hydrophobic). Une troisième forme, R (pour readthrough) qui serait impliquée dans la réponse au stress, est codée par un transcrit non épissé dans le domaine alternatif du prémessager. Le but de mes recherches est d’identifier les séquences en cis impliquées dans les choix d’épissage. Après avoir montré que la lignée cellulaire myogénique MBI produit majoritairement des transcrits de type T de manière endogène, j’ai mis au point les conditions d’analyse de l’épissage de transcrits recombinants dans cette lignée ainsi que dans la lignée de cellules fibroblastiques COS-7 qui ne présente pas de spécificité d’épissage et produit les trois types d’ARN messagers et de sous-unités protéiques. Les transcrits recombinants sont exprimés après transfection transitoire d’un minigène comportant les exons codant le domaine catalytique fusionnés suivis du domaine alternatif complet. L’analyse des produits d’épissage est ainsi réalisable à la fois au niveau de l’ARN (par RT-PCR) et de la protéine (par gradient de saccharose). Des mutations du minigène d’AChE transfecté dans la lignée MBI m’ont permis d’établir les résultats suivants: (i) le domaine alternatif du gène (intron 4’, exon 5, intron 5’ et exon 6) est suffisant pour un épissage normal vers la forme T; (ii) la séquence 3’ non codante en aval de l’exon 6 ne semble pas jouer de rôle dans les choix d’épissage; (iii) les séquences codantes (exons 5 et 6) n’influent pas sur les choix d’épissage; (iv) l’utilisation du site accepteur de l’intron 4’ est réprimée dans la lignée MBI; (v) des motifs particuliers des introns 4’ (triplets de guanosine) et 5’ (séquences polypyrimidiques) semblent impliqués dans le choix d’épissage. Ces résultats, qui soulignent le rôle essentiel des introns 4’ et 5’, m’amènent à formuler un premier modèle du mécanisme d’épissage alternatif du messager de l’AChE. Par ailleurs, suite à un article paru en 2002 (Meshorer E. Et al. Science 2002) remettant en cause la structure primaire des transcrits matures d’AChE, j’ai été amené à caractériser précisément celle-ci par la méthode RACE (Rapid Amplification of cDNA Ends). Mes résultats montrent que dans les types cellulaires étudiés, la structure des ARN est conforme à celle qui était auparavant décrite.
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Χαϊντίνης, Βασίλειος. "Μοριακή μοντελοποίηση και διαμορφωτική ανάλυση της δομής της πρωτείνης MuSK." Thesis, 2012. http://hdl.handle.net/10889/5690.

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Η πρωτείνη MuSK (Muscle Specific Kinase) αποτελεί μέρος ενός συμπλόκου υποδοχέων της αγκρίνης (agrin) οι οποίοι διεγείρουν την φωσφορυλίωση της τυροσίνης και οδηγούν στην ομαδοποίηση των υποδοχέων ακετυλοχολίνης (AChRs) στην μετασυναπτική μεμβράνη της νευρομυϊκής σύναψης των σπονδυλωτών οργανισμών. Μεταλλάξεις της MuSK είναι υπεύθυνες για ασθένειες και δυσλειτουργίες της νευρομυϊκής σύναψης, όπως το εκ γενετής μυασθενικό σύνδρομο. Τα τελευταία χρόνια το ενδιαφέρον για την πρωτεΐνη MuSK έχει αυξηθεί, αλλά παρόλα αυτά δεν έχουν αποδειχθεί πλήρως, ούτε ο ρόλος της, ούτε η λειτουργία της ,ούτε η δομής της. Χρησιμοποιώντας τεχνικές μοντελοποίησης μέσω ομολογίας και χρησιμοποιώντας ως εκμαγεία γνωστές κρυσταλλογραφικές δομές, δημιουργήθηκε το υπολογιστικό μοντέλο της ανθρώπινης MuSK. Για την μελέτη της συμπεριφοράς της πρωτεΐνης πραγματοποιήθηκαν προσομοιώσεις Μοριακής Δυναμικής σε υδατικό περιβάλλον όπου εξήχθησαν συμπεράσματα για τον προσανατολισμό της δομής, τις αλληλεπιδράσεις των τμημάτων της και την συνολική συμπεριφορά του μορίου.
The protein MuSK (Muscle specific Kinase) is part of an agrin receptor complex which stimulates tyrosine phosphorylation and lead to the clustering of acetylcholine receptors (AChRs) in the postsynaptic membrane of the neuromuscular junction of vertebrate organisms. MuSK mutations are responsible for diseases and disorders of the neuromuscular junction, such as congenital myasthenic syndrome. In recent years interest over MuSK protein has increased, but till now neither the role nor function, nor the structure of the protein have been fully demonstrated. Using homology modeling techniques and based on templates of known crystallographic structures, we have generated in silico the model of human MuSK. To study the behavior of the protein we used molecular dynamics simulations carried out in an aqueous environment where conclusions were reached on the orientation of the structure, interactions between the domains of the protein and the overall behavior of the molecule.
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Khan, Muhammad Amir [Verfasser]. "MuSK, a previously known muscle specific receptor tyrosine kinase is expressed in retinal astrocytes and interacting with Erbin / vorgelegt von Muhammad Amir Khan." 2006. http://d-nb.info/982483279/34.

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Books on the topic "Muscle-Specific Kinase (MuSK)"

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Kuwabara, Satoshi. Neuromuscular junction disorders. Oxford University Press, 2015. http://dx.doi.org/10.1093/med/9780199658602.003.0014.

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Ten seminal papers on disorders of the neuromuscular junction are described, covering historical aspects, recent advances in immunological, biological, and genetic researches, and future perspectives. Early descriptions of myasthenia gravis (MG) date back to the seventeenth century, and MG acquired its name in the nineteenth century. The first symptomatic treatment with cholinesterase inhibitors was reported in 1934, leading to the development of modern immunological therapies. Following the discovery of anti-MuSK (muscle-specific tyrosine kinase) antibody in 2001, MG is currently classified into three categories: AChR-positive, MuSK-positive, and dual-seronegative. Lambert-Eaton myasthenic syndrome was recognized in 1956, followed by the discovery of antibodies to voltage-gated calcium channels in the pre-synaptic membrane, facilitating diagnosis and improving the understanding of the pathophysiological mechanisms. Since the late twentieth century, many types of congenital myasthenic syndromes with pre-synaptic, synaptic, and post-synaptic defects have been identified, and a classification based on molecular genetics is in evolution.
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Reddy, Ugan, and Nicholas Hirsch. Diagnosis, assessment, and management of myasthenia gravis and paramyasthenic syndromes. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199600830.003.0244.

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Diseases that affect the neuromuscular junction (NMJ) interfere with normal nerve transmission and cause weakness of voluntary muscles. The two most commonly encountered are acquired myasthenia gravis (MG) and the Lambert–Eaton myasthenic syndrome (LEMS). Acquired MG is an autoimmune disease in which antibodies are directed towards receptors at the NMJ. In 85% of patients, IgG antibodies against the postsynaptic acetylcholine receptor (AChR) are found (seropositive MG). The thymus gland appears to be involved in the production of these which cause an increase rate of degradation of AChR resulting in a decreased receptor density resulting in a reduced postsynaptic end-plate potential following motor nerve stimulation and leading to muscle weakness. Although all voluntary muscles can be affected, ocular, bulbar, respiratory, and proximal limb weakness predominates. In the majority of seronegative patients, an antibody directed towards a NMJ protein called muscle specific tyrosine kinase (MUSK) is found. Anti-MUSK MG is characterized by severe bulbar and respiratory muscle weakness. Diagnosis of MG requires a high degree of clinical suspicion coupled with pharmacological and electrophysiological testing, and detection of the various causative antibodies. Treatment of MG involves enhancing neuromuscular transmission with long-acting anticholinesterase agents and immunosuppression. Acute exacerbations are treated with either plasma exchange or intravenous immunoglobulin. Myasthenic crisis is associated with severe muscle weakness that necessitates tracheal intubation and mechanical ventilation. LEMS is an autoimmune disease in which IgG antibodies are directed towards the pre-synaptic voltage-gated calcium channels at the NMJ. It is often associated with malignant disease (usually small cell carcinoma of the lung). Autonomic dysfunction is prominent and patients show abnormal responses to neuromuscular blocking drugs.
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Book chapters on the topic "Muscle-Specific Kinase (MuSK)"

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Miller, Aaron E., Tracy M. DeAngelis, Michelle Fabian, and Ilana Katz Sand. "Double Vision and Droopy Eyelids." In Neuroimmunology, 75–82. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190693190.003.0014.

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Myasthenia gravis is a disorder manifest by fluctuating neurological symptoms, most commonly occurring in younger women or older men. Ocular manifestations, including ptosis and double vision, are particularly frequent. However, bulbar symptoms are also common, and weakness of the extremities may occur. Respiratory impairment may be life-threatening. MG most often results from a loss of functional acetylcholine receptors (AChR) on the postsynaptic membrane of the neuromuscular junction caused by the presence of antibodies to the AChR. The serological demonstration of these antibodies most frequently establishes the diagnosis. Occasional patients, particularly with atypical presentations, are negative for anti-AChR antibodies but demonstrate the presence of anti-muscle specific receptor tyrosine kinase (MuSK) antibodies or lipoprotein receptor-related protein 4 (LRP4). Demonstration of a decremental response of greater than 10% to repetitive nerve stimulation (RNS) is strong evidence for the diagnosis of MG, but this finding is usually absent in patients with purely ocular myasthenia. Management of patients includes symptomatic treatment with acetylcholine esterase inhibitors and immunotherapy including corticosteroids, plasma exchange, or intravenous immunoglobulin, and immunosuppressive agents. A recent randomized, controlled trial has demonstrated the benefit of trans-sternal thymectomy in appropriate patients.
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Conference papers on the topic "Muscle-Specific Kinase (MuSK)"

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Santiago, Mayhara Rosany da Silva, Renata Amaral Andrade, Ana Caroline Paiva Simeão, and Heloisy Maria Nunes Galvão. "Congenital myasthenic syndrome due rapsyn mutation presenting with predominant ocular symptoms and good therapeutic response with salbutamol." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.622.

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Introduction: Rapsyn mutations are found in Congenital Myasthenic Syndromes (CMS), usually described with early onset, hypotonia and respiratory insufficiency. Late onset phenotypes had already been described, with mild limb weakness and semiptosis. Episodic respiratory symptons and lack of ophthalmoparesis are considered hallmarks of rapsyn – CMS. The aim is to describe an unusual phenotype of a commom mutation of Rapsyn CMS and therapeutic response with salbutamol. Case report: A 29-year-old female patient was referred complaining of diplopia and fatigable assymmetrical semiptosis during the last six years. She pratices physical exercise, with no fatigue or weakness in limbs. Her past medical history was unremarkable except for drop neck episodes triggered by viral infectons during childhood, with first episode taking place around two years of age. Her parents were consaguinous, howeve no similar clinical picture was reported in family members. In clinical examination besides assymetrical semiptosis and ophthalmoparesis, was noted winged scapula, with normal muscle trofism and strength in four limbs. Laboratory investigation showed negative acetylcholine receptor antibodies (anti-AChR), and negative muscle-specific kinase antibodies (anti-MuSK). Single fiber electromyography revealed abnormal jitter. Genetic panel found a pathogenic homozygous mutation in the RAPSN gene (chr11:47.448.079G>T; p.Asn88Lys). She was treated with pyridostigmine and showed poor response. We opted to start salbutamol with marked clinical improvement. Conclusion: Rapsyn-CMS may present as late episodic diplopia, with semiptosis and ophthalmoparesis, and no limb or respiratory muscle weakness. That diagnosis possibility should be also considered in patients with late onset ocular symptons, incomplete response to pyridostigmine and negative assays for auto antibodies.
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