Distrofia muscular de Becker con duplicación en el exón 5del gen DMD

Autores:: Sánchez, Ana Isabel
Mariño, Nathalie
Araujo, Andrés Felipe
Espinosa, Eugenia

Tipo de recurso:: Article of journal

Fecha de publicación:: 2019

Institución:: Fundación Universitaria de Ciencias de la Salud - FUCS

Repositorio:: Repositorio Digital Institucional ReDi

Idioma:: spa

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dc.title.spa.fl_str_mv	Distrofia muscular de Becker con duplicación en el exón 5del gen DMD
dc.title.translated.eng.fl_str_mv	Distrofia muscular de Becker con duplicación en el exón 5del gen DMD
title	Distrofia muscular de Becker con duplicación en el exón 5del gen DMD
spellingShingle	Distrofia muscular de Becker con duplicación en el exón 5del gen DMD Distrofia muscular ligada a X Distrofia muscular de Duchenne Distrofia muscular de Becker Duplicación Distrofinopatías X-linked muscular dystrophy Duchenne muscular dystrophy Becker Muscular dystrophy Duplication Dystrophinopathies
title_short	Distrofia muscular de Becker con duplicación en el exón 5del gen DMD
title_full	Distrofia muscular de Becker con duplicación en el exón 5del gen DMD
title_fullStr	Distrofia muscular de Becker con duplicación en el exón 5del gen DMD
title_full_unstemmed	Distrofia muscular de Becker con duplicación en el exón 5del gen DMD
title_sort	Distrofia muscular de Becker con duplicación en el exón 5del gen DMD
dc.creator.fl_str_mv	Sánchez, Ana Isabel Mariño, Nathalie Araujo, Andrés Felipe Espinosa, Eugenia
dc.contributor.author.spa.fl_str_mv	Sánchez, Ana Isabel Mariño, Nathalie Araujo, Andrés Felipe Espinosa, Eugenia
dc.subject.spa.fl_str_mv	Distrofia muscular ligada a X Distrofia muscular de Duchenne Distrofia muscular de Becker Duplicación Distrofinopatías
topic	Distrofia muscular ligada a X Distrofia muscular de Duchenne Distrofia muscular de Becker Duplicación Distrofinopatías X-linked muscular dystrophy Duchenne muscular dystrophy Becker Muscular dystrophy Duplication Dystrophinopathies
dc.subject.eng.fl_str_mv	X-linked muscular dystrophy Duchenne muscular dystrophy Becker Muscular dystrophy Duplication Dystrophinopathies
publishDate	2019
dc.date.accessioned.none.fl_str_mv	2019-07-01 13:32:08 2022-06-29T19:37:51Z
dc.date.issued.none.fl_str_mv	2019-07-01
dc.date.available.none.fl_str_mv	2019-07-01 13:32:08 2022-06-29T19:37:51Z
dc.type.spa.fl_str_mv	Artículo de revista
dc.type.eng.fl_str_mv	Journal article
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dc.relation.references.spa.fl_str_mv	Blake DJ, Weir A, Newey SE, Davies KE. Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiological reviews. 2002;82(2):291-329. doi: 10.1152/physrev.00028.2001. 2. Muntoni F, Melis MA, Ganau A, Dubowitz V. Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. American journal of human genetics. 1995;56(1):151-7. 3. Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. The Lancet Neurology. 2003;2(12):731-40. 4. Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. The Lancet Neurology. 2010;9(1):77-93. doi: 10.1016/S1474-4422(09)70271-6. 5. Hoffman EP, Fischbeck KH, Brown RH, Johnson M, Medori R, Loike JD, et al. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. The New England journal of medicine. 1988;318(21):1363-8. doi: 10.1056/NEJM198805263182104 6. Essex C, Roper H. Lesson of the week: late diagnosis of Duchenne's muscular dystrophy presenting as global developmental delay. BMJ. 2001;323(7303):37-8. 7. Bushby KM, Gardner-Medwin D, Nicholson LV, Johnson MA, Haggerty ID, Cleghorn NJ, et al. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities. Journal of neurology. 1993;240(2):105-12. 8. Ministerio de Salud y Protección Social, Departamento Administrativo de Ciencia Tecnología e Innovación - Colciencias. Guía de práctica clínica, para la detección temprana, atención integral, seguimiento y rehabilitación de pacientes con diagnóstico de distrofia muscular. Guía No. 37. Bogotá: Ministerio de Salud y Protección Social; 2015. p. 694. 9. Hegde MR, Chin EL, Mulle JG, Okou DT, Warren ST, Zwick ME. Microarray-based mutation detection in the dystrophin gene. Human mutation. 2008;29(9):1091-9. doi: 10.1002/humu.20831. 10. Stockley TL, Akber S, Bulgin N, Ray PN. Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies. Genetic testing. 2006;10(4):229-43. doi: 10.1089/gte.2006.10.229. 11. Gatta V, Scarciolla O, Gaspari AR, Palka C, De Angelis MV, Di Muzio A, et al. Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). Human genetics. 2005;117(1):92-8. doi: 10.1007/s00439-005-1270-7. 12. Janssen B, Hartmann C, Scholz V, Jauch A, Zschocke J. MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. Neurogenetics. 2005;6(1):29-35. doi: 10.1007/s10048-004-0204-1. 13. Hamed SA, Hoffman EP. Automated sequence screening of the entire dystrophin cDNA in Duchenne dystrophy: point mutation detection. American journal of medical genetics Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 2006;141B(1):44-50. doi: 10.1002/ajmg.b.30234. 14. Nicholson LV, Johnson MA, Gardner-Medwin D, Bhattacharya S, Harris JB. Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy. Acta neuropathologica. 1990;80(3):239-50. 15. Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics. 1988;2(1):90-5. 16. Aartsma-Rus A, Van Deutekom JC, Fokkema IF, Van Ommen GJ, Den Dunnen JT. Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle & nerve. 2006;34(2):135-44. doi: 10.1002/mus.20586. 17. Vengalil S, Preethish-Kumar V, Polavarapu K, Mahadevappa M, Sekar D, Purushottam M, et al. Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort. J Clin Neurol. 2017;13(1):91-7. doi: 10.3988/jcn.2017.13.1.91. 18. Yang J, Li SY, Li YQ, Cao JQ, Feng SW, Wang YY, et al. MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD. BMC medical genetics. 2013;14:29. doi: 10.1186/1471-2350-14-29. 19. Guo R, Zhu G, Zhu H, Ma R, Peng Y, Liang D, et al. DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy. Journal of human genetics. 2015;60(8):435-42. doi: 10.1038/jhg.2015.43. 20. Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, et al. Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Human mutation. 2009;30(12):1657-66. doi: 10.1002/humu.21114. 21. Juan-Mateu J, Gonzalez-Quereda L, Rodriguez MJ, Baena M, Verdura E, Nascimento A, et al. DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations. PloS one. 2015;10(8):e0135189. doi: 10.1371/journal.pone.0135189. 22. Hu XY, Ray PN, Worton RG. Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination. The EMBO journal. 1991;10(9):2471-7. 23. White SJ, Aartsma-Rus A, Flanigan KM, Weiss RB, Kneppers AL, Lalic T, et al. Duplications in the DMD gene. Human mutation. 2006;27(9):938-45. doi: 10.1002/humu.20367. 24. Tay SK, Ong HT, Low PS. Transaminitis in Duchenne's muscular dystrophy. Annals of the Academy of Medicine, Singapore. 2000;29(6):719-22. 25. Rinaldi C, Wood MJA. Antisense oligonucleotides: the next frontier for treatment of neurological disorders. Nature reviews Neurology. 2018;14(1):9-21. doi: 10.1038/nrneurol.2017.148. 26. Nelson CE, Robinson-Hamm JN, Gersbach CA. Genome engineering: a new approach to gene therapy for neuromuscular disorders. Nature reviews Neurology. 2017;13(11):647-61. doi: 10.1038/nrneurol.2017.126. 27. Lattanzi A, Duguez S, Moiani A, Izmiryan A, Barbon E, Martin S, et al. Correction of the Exon 2 Duplication in DMD Myoblasts by a Single CRISPR/Cas9 System. Molecular therapy Nucleic acids. 2017;7:11-9. doi: 10.1016/j.omtn.2017.02.004. 28. Mah JK. An Overview of Recent Therapeutics Advances for Duchenne Muscular Dystrophy. Methods Mol Biol. 2018;1687:3-17. doi: 10.1007/978-1-4939-7374-3_1. 29. McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, et al. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet. 2017;390(10101):1489-98. doi: 10.1016/S0140-6736(17)31611-2. 30. Yilmaz O, Karaduman A, Topaloglu H. Prednisolone therapy in Duchenne muscular dystrophy prolongs ambulation and prevents scoliosis. European journal of neurology. 2004;11(8):541-4. doi: 10.1111/j.1468-1331.2004.00866.x. 31. Bell JM, Shields MD, Watters J, Hamilton A, Beringer T, Elliott M, et al. Interventions to prevent and treat corticosteroid-induced osteoporosis and prevent osteoporotic fractures in Duchenne muscular dystrophy. The Cochrane database of systematic reviews. 2017;1:CD010899. doi: 10.1002/14651858.CD010899.pub2.
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spelling	Sánchez, Ana Isabel0bf790f20619c2e4ea48b54943cbd878300Mariño, Nathalie5bfec011a2608d2504412171dc2f039e500Araujo, Andrés Felipe569fab5644ffb1248c1f6128190e4c97300Espinosa, Eugenia7923532fc685fbcd9315b0e430abed333002019-07-01 13:32:082022-06-29T19:37:51Z2019-07-012019-07-01 13:32:082022-06-29T19:37:51ZSociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la Saludhttps://revistas.fucsalud.edu.co/index.php/repertorio/article/view/920Distrofia muscular ligada a XDistrofia muscular de DuchenneDistrofia muscular de BeckerDuplicaciónDistrofinopatíasX-linked muscular dystrophyDuchenne muscular dystrophyBeckerMuscular dystrophyDuplicationDystrophinopathiesDistrofia muscular de Becker con duplicación en el exón 5del gen DMDDistrofia muscular de Becker con duplicación en el exón 5del gen DMDapplication/pdftext/htmlapplication/xmlapplication/epub+zipaudio/mpegArtículo de revistaJournal articlehttp://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_2df8fbb1info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionTexthttp://purl.org/redcol/resource_type/ARTREFhttp://purl.org/coar/version/c_970fb48d4fbd8a8510.31260/RepertMedCir.v28.n2.2019.9200121-7372https://repositorio.fucsalud.edu.co/handle/001/29182462-991Xhttps://doi.org/10.31260/RepertMedCir.v28.n2.2019.920spaBlake DJ, Weir A, Newey SE, Davies KE. Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiological reviews. 2002;82(2):291-329. doi: 10.1152/physrev.00028.2001. 2. Muntoni F, Melis MA, Ganau A, Dubowitz V. Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. American journal of human genetics. 1995;56(1):151-7. 3. Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. The Lancet Neurology. 2003;2(12):731-40. 4. Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. The Lancet Neurology. 2010;9(1):77-93. doi: 10.1016/S1474-4422(09)70271-6. 5. Hoffman EP, Fischbeck KH, Brown RH, Johnson M, Medori R, Loike JD, et al. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. The New England journal of medicine. 1988;318(21):1363-8. doi: 10.1056/NEJM198805263182104 6. Essex C, Roper H. Lesson of the week: late diagnosis of Duchenne's muscular dystrophy presenting as global developmental delay. BMJ. 2001;323(7303):37-8. 7. Bushby KM, Gardner-Medwin D, Nicholson LV, Johnson MA, Haggerty ID, Cleghorn NJ, et al. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities. Journal of neurology. 1993;240(2):105-12. 8. Ministerio de Salud y Protección Social, Departamento Administrativo de Ciencia Tecnología e Innovación - Colciencias. Guía de práctica clínica, para la detección temprana, atención integral, seguimiento y rehabilitación de pacientes con diagnóstico de distrofia muscular. Guía No. 37. Bogotá: Ministerio de Salud y Protección Social; 2015. p. 694. 9. Hegde MR, Chin EL, Mulle JG, Okou DT, Warren ST, Zwick ME. Microarray-based mutation detection in the dystrophin gene. Human mutation. 2008;29(9):1091-9. doi: 10.1002/humu.20831. 10. Stockley TL, Akber S, Bulgin N, Ray PN. Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies. Genetic testing. 2006;10(4):229-43. doi: 10.1089/gte.2006.10.229. 11. Gatta V, Scarciolla O, Gaspari AR, Palka C, De Angelis MV, Di Muzio A, et al. Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). Human genetics. 2005;117(1):92-8. doi: 10.1007/s00439-005-1270-7. 12. Janssen B, Hartmann C, Scholz V, Jauch A, Zschocke J. MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. Neurogenetics. 2005;6(1):29-35. doi: 10.1007/s10048-004-0204-1. 13. Hamed SA, Hoffman EP. Automated sequence screening of the entire dystrophin cDNA in Duchenne dystrophy: point mutation detection. American journal of medical genetics Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 2006;141B(1):44-50. doi: 10.1002/ajmg.b.30234. 14. Nicholson LV, Johnson MA, Gardner-Medwin D, Bhattacharya S, Harris JB. Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy. Acta neuropathologica. 1990;80(3):239-50. 15. Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics. 1988;2(1):90-5. 16. Aartsma-Rus A, Van Deutekom JC, Fokkema IF, Van Ommen GJ, Den Dunnen JT. Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle & nerve. 2006;34(2):135-44. doi: 10.1002/mus.20586. 17. Vengalil S, Preethish-Kumar V, Polavarapu K, Mahadevappa M, Sekar D, Purushottam M, et al. Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort. J Clin Neurol. 2017;13(1):91-7. doi: 10.3988/jcn.2017.13.1.91. 18. Yang J, Li SY, Li YQ, Cao JQ, Feng SW, Wang YY, et al. MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD. BMC medical genetics. 2013;14:29. doi: 10.1186/1471-2350-14-29. 19. Guo R, Zhu G, Zhu H, Ma R, Peng Y, Liang D, et al. DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy. Journal of human genetics. 2015;60(8):435-42. doi: 10.1038/jhg.2015.43. 20. Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, et al. Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Human mutation. 2009;30(12):1657-66. doi: 10.1002/humu.21114. 21. Juan-Mateu J, Gonzalez-Quereda L, Rodriguez MJ, Baena M, Verdura E, Nascimento A, et al. DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations. PloS one. 2015;10(8):e0135189. doi: 10.1371/journal.pone.0135189. 22. Hu XY, Ray PN, Worton RG. Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination. The EMBO journal. 1991;10(9):2471-7. 23. White SJ, Aartsma-Rus A, Flanigan KM, Weiss RB, Kneppers AL, Lalic T, et al. Duplications in the DMD gene. Human mutation. 2006;27(9):938-45. doi: 10.1002/humu.20367. 24. Tay SK, Ong HT, Low PS. Transaminitis in Duchenne's muscular dystrophy. Annals of the Academy of Medicine, Singapore. 2000;29(6):719-22. 25. Rinaldi C, Wood MJA. Antisense oligonucleotides: the next frontier for treatment of neurological disorders. Nature reviews Neurology. 2018;14(1):9-21. doi: 10.1038/nrneurol.2017.148. 26. Nelson CE, Robinson-Hamm JN, Gersbach CA. Genome engineering: a new approach to gene therapy for neuromuscular disorders. Nature reviews Neurology. 2017;13(11):647-61. doi: 10.1038/nrneurol.2017.126. 27. Lattanzi A, Duguez S, Moiani A, Izmiryan A, Barbon E, Martin S, et al. Correction of the Exon 2 Duplication in DMD Myoblasts by a Single CRISPR/Cas9 System. Molecular therapy Nucleic acids. 2017;7:11-9. doi: 10.1016/j.omtn.2017.02.004. 28. Mah JK. An Overview of Recent Therapeutics Advances for Duchenne Muscular Dystrophy. Methods Mol Biol. 2018;1687:3-17. doi: 10.1007/978-1-4939-7374-3_1. 29. McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, et al. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet. 2017;390(10101):1489-98. doi: 10.1016/S0140-6736(17)31611-2. 30. Yilmaz O, Karaduman A, Topaloglu H. Prednisolone therapy in Duchenne muscular dystrophy prolongs ambulation and prevents scoliosis. European journal of neurology. 2004;11(8):541-4. doi: 10.1111/j.1468-1331.2004.00866.x. 31. Bell JM, Shields MD, Watters J, Hamilton A, Beringer T, Elliott M, et al. Interventions to prevent and treat corticosteroid-induced osteoporosis and prevent osteoporotic fractures in Duchenne muscular dystrophy. The Cochrane database of systematic reviews. 2017;1:CD010899. doi: 10.1002/14651858.CD010899.pub2.https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/920/981https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/920/1014https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/920/1027https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/920/1040https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/920/1054Núm. 2 , Año 2019 : Mayo - Agosto228Revista Repertorio de Medicina y Cirugíainfo:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/4.0/http://purl.org/coar/access_right/c_abf2OREORE.xmltext/xml2790https://repositorio.fucsalud.edu.co/bitstreams/79e4673e-a252-48b0-8e80-8b4ca915f402/download65d8ba94cae2b7039b99196fe371d2ecMD51001/2918oai:repositorio.fucsalud.edu.co:001/29182022-06-29 14:37:51.47https://creativecommons.org/licenses/by-nc-sa/4.0/metadata.onlyhttps://repositorio.fucsalud.edu.coRepositorio Digital de la Fundación Universitaria de Ciencias de la Saludredi@fucsalud.edu.co

Distrofia muscular de Becker con duplicación en el exón 5del gen DMD

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