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Quoted phrase not found in phrase index: "Congenital myasthenic syndrome 18"
Page 1
Congenital myasthenic syndromes.
Eymard B, Hantaï D, Estournet B. Eymard B, et al. Handb Clin Neurol. 2013;113:1469-80. doi: 10.1016/B978-0-444-59565-2.00016-2. Handb Clin Neurol. 2013. PMID: 23622369 Review.
Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects affecting neuromuscular transmission and leading to muscle weakness accentuated by exertion. ...The combination of clinical, electrophysiological, and morph …
Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects affecting neurom …
Congenital Myasthenic Syndrome From a Single Center: Phenotypic and Genotypic features.
Prior DE, Ghosh PS. Prior DE, et al. J Child Neurol. 2021 Jul;36(8):610-617. doi: 10.1177/0883073820987755. Epub 2021 Jan 20. J Child Neurol. 2021. PMID: 33471587
BACKGROUND: Congenital myasthenic syndrome is a group of rare genetic disorders affecting transmission across the neuromuscular junction. Patients present with variable ocular, bulbar, respiratory, and extremity weakness that may respond to symptomatic therap …
BACKGROUND: Congenital myasthenic syndrome is a group of rare genetic disorders affecting transmission across the neuro …
Congenital myasthenic syndrome in China: genetic and myopathological characterization.
Zhao Y, Li Y, Bian Y, Yao S, Liu P, Yu M, Zhang W, Wang Z, Yuan Y. Zhao Y, et al. Ann Clin Transl Neurol. 2021 Apr;8(4):898-907. doi: 10.1002/acn3.51346. Epub 2021 Mar 23. Ann Clin Transl Neurol. 2021. PMID: 33756069 Free PMC article.
OBJECTIVE: We aimed to summarize the clinical, genetic, and myopathological features of a cohort of Chinese patients with congenital myasthenic syndrome, and follow up on therapeutic outcomes. ...Based on the follow-up findings, we suggest cautious evaluation …
OBJECTIVE: We aimed to summarize the clinical, genetic, and myopathological features of a cohort of Chinese patients with congenital …
COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum.
Hesami O, Ramezani M, Ghasemi A, Fatehi F, Okhovat AA, Ziaadini B, Kariminejad A, Nafissi S. Hesami O, et al. Orphanet J Rare Dis. 2024 Mar 12;19(1):113. doi: 10.1186/s13023-024-03116-x. Orphanet J Rare Dis. 2024. PMID: 38475910 Free PMC article.
BACKGROUND: Congenital myasthenic syndrome (CMS) is a group of neuromuscular disorders caused by abnormal signal transmission at the motor endplate. Mutations in the collagen-like tail subunit gene (COLQ) of acetylcholinesterase are responsible for recessive …
BACKGROUND: Congenital myasthenic syndrome (CMS) is a group of neuromuscular disorders caused by abnormal signal transm …
Congenital Myasthenic Syndrome: Spectrum of Mutations in an Indian Cohort.
Selvam P, Arunachal G, Danda S, Chapla A, Sivadasan A, Alexander M, Thomas MM, Thomas NJ. Selvam P, et al. J Clin Neuromuscul Dis. 2018 Sep;20(1):14-27. doi: 10.1097/CND.0000000000000222. J Clin Neuromuscul Dis. 2018. PMID: 30124556
OBJECTIVES: To investigate the mutational spectrum and genotype-phenotype correlation in Indian patients with congenital myasthenic syndrome (CMS), using next-generation sequencing of 5 genes. ...In addition, we recommend that patients with isolated limb-gird …
OBJECTIVES: To investigate the mutational spectrum and genotype-phenotype correlation in Indian patients with congenital myastheni …
Genetic and clinical evaluation of congenital myasthenic syndromes with long-term follow-up: experience of a tertiary center in Turkey.
Yildiz EP, Kilic MA, Yalcin EU, Kurekci F, Avci R, Hacıfazlıoğlu NE, Ceylaner S, Gezdirici A, Çalışkan M. Yildiz EP, et al. Acta Neurol Belg. 2023 Oct;123(5):1841-1847. doi: 10.1007/s13760-022-02090-0. Epub 2022 Sep 12. Acta Neurol Belg. 2023. PMID: 36094697
INTRODUCTION: Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders affecting the safety factor which required for neuromuscular transmission. ...RESULTS: The most common mutations were in the acetylcholine receptor (CHRNE) gene …
INTRODUCTION: Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders affecting the safety …
Developing outcome measures of disease activity in pediatric myasthenia.
Prior DE, Cooper BA, Zhang B, Ghosh PS. Prior DE, et al. Muscle Nerve. 2021 May;63(5):751-757. doi: 10.1002/mus.27208. Epub 2021 Feb 28. Muscle Nerve. 2021. PMID: 33604899
INTRODUCTION: Pediatric myasthenia encompasses juvenile myasthenia gravis (JMG) and congenital myasthenic syndrome (CMS), which are chronic disorders with fluctuating symptoms amenable to medical therapy. Disease activity and treatment response may be difficu …
INTRODUCTION: Pediatric myasthenia encompasses juvenile myasthenia gravis (JMG) and congenital myasthenic syndrome (CMS …
Pharmacologic treatment of downstream of tyrosine kinase 7 congenital myasthenic syndrome.
Witting N, Vissing J. Witting N, et al. JAMA Neurol. 2014 Mar;71(3):350-4. doi: 10.1001/jamaneurol.2013.5590. JAMA Neurol. 2014. PMID: 24425145 Review.
IMPORTANCE: Congenital myasthenic syndromes (CMSs) are increasingly recognized as causes of muscle fatigue and weakness. However, treatment of individual syndromes has been described only in small case series. OBJECTIVE: To analyze the information publ …
IMPORTANCE: Congenital myasthenic syndromes (CMSs) are increasingly recognized as causes of muscle fatigue and weakness …
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.
Guergueltcheva V, Müller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Mallebrera CJ, Nascimento A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein OK, Najafi A, Urtizberea A, Soler DM, Muntoni F, Hanna MG, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A, Lochmüller H. Guergueltcheva V, et al. J Neurol. 2012 May;259(5):838-50. doi: 10.1007/s00415-011-6262-z. Epub 2011 Oct 6. J Neurol. 2012. PMID: 21975507
Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of inherited disorders of the neuromuscular junction. ...As tubular aggregates in context of a neuromuscular transmission defect appear to be highly indicative, we sugges …
Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of inherited disorders of the …
Motoneuron-specific loss of VAChT mimics neuromuscular defects seen in congenital myasthenic syndrome.
Joviano-Santos JV, Kljakic O, Magalhães-Gomes MPS, Valadão PAC, de Oliveira LR, Prado MAM, Prado VF, Guatimosim C. Joviano-Santos JV, et al. FEBS J. 2021 Sep;288(18):5331-5349. doi: 10.1111/febs.15825. Epub 2021 Apr 25. FEBS J. 2021. PMID: 33730374 Free article.
ACh is packaged into synaptic vesicles by the vesicular ACh transporter (VAChT), and disruptions in its release can impair muscle contraction, as seen in congenital myasthenic syndromes (CMS). Recently, VAChT gene mutations were identified in humans displayin …
ACh is packaged into synaptic vesicles by the vesicular ACh transporter (VAChT), and disruptions in its release can impair muscle contractio …
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