Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Síndrome Miasténico Congénito"'
Publikováno v:
Engel A. Congenital Myasthenic Syndromes. Curr Neurol Neurosci Rep. 2012;12(1):92–101.
Harper CM. Congenital Myasthenic Syndromes. Contin Lifelong Learn Neurol. 2009;15(1):63–82.
Koenigsberger, M.R., Pascual JM. Síndromes miasténicos del neonato. Rev Neurol. 2002;34(1):47–51.
Pareja M. Situación actual de las enfermedades huérfanas en Colombia. CES Derecho [Internet]. 2017;8(2):231–41. Available from: http://www.scielo.org.co/pdf/cesd/v8n2/v8n2a03.pdf
Abicht A, Müller J S LH. Congenital Myasthenic Syndromes. 2003 May 9 [Updated 2016 Jul 14]. In: Adam MP, Ardinger HH PR, editor. GeneReview. Seattle (WA): University of Washington, Seattle: 1993-2019; Available from: https://www.ncbi.nlm.nih.gov/books/NBK1168/
Natera-de Benito D, Domínguez-Carral J, Muelas N, Nascimento A, Ortez C, Jaijo T, et al. Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up. Neuromuscul Disord [Internet]. 2016;26(11):789–95. Available from: http://dx.doi.org/10.1016/j.nmd.2016.08.005
Ruff, R.L. R, P. Faster, slower, but never better. Mutations of the skeletal muscle acetylcholine receptor. Neurology. 2012;79:404–5.
Engel, A., Shen, X. M., Selcen, D., Sine S. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. Lancet Neurol [Internet]. 2015;14(4):420–34. Available from: http://dx.doi.org/10.1038/nrgastro.2015.227
Ramos, T., Ruthes, H., Bigolin S. Congenital myasthenia and external ophthalmoplegia. Arq Brass Oftalmol [Internet]. 2001;64(1):477–80. Available from: http://www.sciencedirect.com/science/article/pii/S1636541001701201
Zhu, H., Grajales-Reyes, E., Vázquez, V., Robinson, K., Pytel, P., Báez C. Fluoxetine is neuroprotective in slow-channel congenital myasthenic syndrome. Exp Neurol. 2015;270(1):88–94.
Kumar RsS, Kuruvilla A. Repetitive compound muscle action potentials in electrophysiological diagnosis of congenital myasthenic syndromes: A case report and review of literature. Ann Indian Acad Neurol [Internet]. 2010;13(2):139–41. Available from: http://www.annalsofian.org/text.asp?2010/13/2/139/64645
Castro, T., Guerrero, P., Mateus H. Análisis clínico-molecular en una paciente con miastenia congénita. Iatreia [Internet]. 2010;23(4S):37. Available from: https://aprendeenlinea.udea.edu.co/revistas/index.php/iatreia/article/view/8152
MINSALUD COLOMBIA. SISPRO Sistema Integral de Información de la Protección Social. http://www.sispro.gov.co/Pages/Contruya%20Su%20Consulta/Prestaciones.aspx. 2018.
Nicole S, Azuma Y, Bauché S, Eymard B, Lochmüller H, Slater C. Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions. J Neuromuscul Dis. 2017;4(4):269–84.
Engel AG. Congenital Myasthenic Syndromes in 2018. Curr Neurol Neurosci Rep. 2018;18:46.
Missias AC, Chu GC, Klocke BJ, Sanes JR, Merlie JP. Maturation of the acetylcholine receptor in skeletal muscle: Regulation of the AChR γ-to-ε switch. Dev Biol. 1996;179:223–38.
Engel AG. Genetic basis and phenotypic features of congenital myasthenic syndromes [Internet]. 1st ed. Vol. 148, Handbook of Clinical Neurology. Elsevier B.V.; 2018. 565–589 p. Available from: http://dx.doi.org/10.1016/B978-0-444-64076-5.00037-5
Sadeh M, Xin-Ming S EA. Beneficial effect of albuterol in CMS with epsilon subunit mutations. Muscle Nerve. 2012;44(2):289–91.
Croxen, R., Vincent, A., Newson-Davis, J., Beeson D. Myasthenia gravis in a woman with congenital AChR deficiency due to E subunit mutations. Neurology. 2002;58(10):1563–5.
Edmundson C, Guidon AC. Neuromuscular Disorders in Pregnancy. Semin Neurol. 2017;37(06):643–52.
Sieck GC, Mantilla CB. Influence of sex hormones on the neuromuscular junction. Adv Mol Cell Biol. 2004;34:183–94.
Santos E, Moreira I, Coutinho E, Gonçalves G, Lopes C, Lopes Lima J, et al. Congenital myasthenic syndrome due to mutation in CHRNE gene with clinical worsening and thymic hyperplasia attributed to association with autoimmune-myasthenia gravis. Neuromuscul Disord. 2015;25(12):928–31.
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Harper CM. Congenital Myasthenic Syndromes. Contin Lifelong Learn Neurol. 2009;15(1):63–82.
Koenigsberger, M.R., Pascual JM. Síndromes miasténicos del neonato. Rev Neurol. 2002;34(1):47–51.
Pareja M. Situación actual de las enfermedades huérfanas en Colombia. CES Derecho [Internet]. 2017;8(2):231–41. Available from: http://www.scielo.org.co/pdf/cesd/v8n2/v8n2a03.pdf
Abicht A, Müller J S LH. Congenital Myasthenic Syndromes. 2003 May 9 [Updated 2016 Jul 14]. In: Adam MP, Ardinger HH PR, editor. GeneReview. Seattle (WA): University of Washington, Seattle: 1993-2019; Available from: https://www.ncbi.nlm.nih.gov/books/NBK1168/
Natera-de Benito D, Domínguez-Carral J, Muelas N, Nascimento A, Ortez C, Jaijo T, et al. Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up. Neuromuscul Disord [Internet]. 2016;26(11):789–95. Available from: http://dx.doi.org/10.1016/j.nmd.2016.08.005
Ruff, R.L. R, P. Faster, slower, but never better. Mutations of the skeletal muscle acetylcholine receptor. Neurology. 2012;79:404–5.
Engel, A., Shen, X. M., Selcen, D., Sine S. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. Lancet Neurol [Internet]. 2015;14(4):420–34. Available from: http://dx.doi.org/10.1038/nrgastro.2015.227
Ramos, T., Ruthes, H., Bigolin S. Congenital myasthenia and external ophthalmoplegia. Arq Brass Oftalmol [Internet]. 2001;64(1):477–80. Available from: http://www.sciencedirect.com/science/article/pii/S1636541001701201
Zhu, H., Grajales-Reyes, E., Vázquez, V., Robinson, K., Pytel, P., Báez C. Fluoxetine is neuroprotective in slow-channel congenital myasthenic syndrome. Exp Neurol. 2015;270(1):88–94.
Kumar RsS, Kuruvilla A. Repetitive compound muscle action potentials in electrophysiological diagnosis of congenital myasthenic syndromes: A case report and review of literature. Ann Indian Acad Neurol [Internet]. 2010;13(2):139–41. Available from: http://www.annalsofian.org/text.asp?2010/13/2/139/64645
Castro, T., Guerrero, P., Mateus H. Análisis clínico-molecular en una paciente con miastenia congénita. Iatreia [Internet]. 2010;23(4S):37. Available from: https://aprendeenlinea.udea.edu.co/revistas/index.php/iatreia/article/view/8152
MINSALUD COLOMBIA. SISPRO Sistema Integral de Información de la Protección Social. http://www.sispro.gov.co/Pages/Contruya%20Su%20Consulta/Prestaciones.aspx. 2018.
Nicole S, Azuma Y, Bauché S, Eymard B, Lochmüller H, Slater C. Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions. J Neuromuscul Dis. 2017;4(4):269–84.
Engel AG. Congenital Myasthenic Syndromes in 2018. Curr Neurol Neurosci Rep. 2018;18:46.
Missias AC, Chu GC, Klocke BJ, Sanes JR, Merlie JP. Maturation of the acetylcholine receptor in skeletal muscle: Regulation of the AChR γ-to-ε switch. Dev Biol. 1996;179:223–38.
Engel AG. Genetic basis and phenotypic features of congenital myasthenic syndromes [Internet]. 1st ed. Vol. 148, Handbook of Clinical Neurology. Elsevier B.V.; 2018. 565–589 p. Available from: http://dx.doi.org/10.1016/B978-0-444-64076-5.00037-5
Sadeh M, Xin-Ming S EA. Beneficial effect of albuterol in CMS with epsilon subunit mutations. Muscle Nerve. 2012;44(2):289–91.
Croxen, R., Vincent, A., Newson-Davis, J., Beeson D. Myasthenia gravis in a woman with congenital AChR deficiency due to E subunit mutations. Neurology. 2002;58(10):1563–5.
Edmundson C, Guidon AC. Neuromuscular Disorders in Pregnancy. Semin Neurol. 2017;37(06):643–52.
Sieck GC, Mantilla CB. Influence of sex hormones on the neuromuscular junction. Adv Mol Cell Biol. 2004;34:183–94.
Santos E, Moreira I, Coutinho E, Gonçalves G, Lopes C, Lopes Lima J, et al. Congenital myasthenic syndrome due to mutation in CHRNE gene with clinical worsening and thymic hyperplasia attributed to association with autoimmune-myasthenia gravis. Neuromuscul Disord. 2015;25(12):928–31.
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Las mutaciones en el gen CHRNE son la principal causa de síndromes miasténicos congénitos. La transmisión en la unión neuromuscular se altera por deficiencia primaria del receptor de acetilcolina o por modificación en las propiedades cinéticas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2146252c5e5c90ed521ec45b2f0568d1
