Asymptomatic Becker muscular dystrophy in a family with a multiexon deletion

dc.creatorFerreiro, Verónica
dc.creatorGiliberto, Florencia
dc.creatorMuñiz García, María Noelia
dc.creatorFrancipane, Liliana
dc.creatorMarzese, Diego Matías
dc.creatorMampel, Alejandra
dc.creatorRoqué, María
dc.creatorFrechtel, Gustavo Daniel
dc.creatorSzijan, Irena
dc.date.accessioned2019-07-23T21:33:34Z
dc.date.accessioned2022-10-15T13:19:49Z
dc.date.available2019-07-23T21:33:34Z
dc.date.available2022-10-15T13:19:49Z
dc.date.created2019-07-23T21:33:34Z
dc.date.issued2009-02
dc.identifierFerreiro, Verónica; Giliberto, Florencia; Muñiz García, María Noelia; Francipane, Liliana; Marzese, Diego Matías; et al.; Asymptomatic Becker muscular dystrophy in a family with a multiexon deletion; John Wiley & Sons Inc; Muscle & Nerve; 39; 2; 2-2009; 239-243
dc.identifier0148-639X
dc.identifierhttp://hdl.handle.net/11336/80097
dc.identifierCONICET Digital
dc.identifierCONICET
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/4390671
dc.description.abstractWe report a Becker muscular dystrophy (BMD) family with one 5-year-old affected patient and a 69-year-old asymptomatic grandfather. Dystrophin gene multiplex polymerase chain reaction and multiplex ligation-dependant probe amplification analysis showed that both males carried an in-frame deletion of exons 45-55. Segregation analysis revealed two additional asymptomatic boys in this family. Our finding supports previous predictions that exons 45-55 are the optimal multiexon skipping target in antisense gene therapy to transform the severe Duchenne muscular dystrophy into the milder BMD, or even asymptomatic, phenotype.
dc.languageeng
dc.publisherJohn Wiley & Sons Inc
dc.relationinfo:eu-repo/semantics/altIdentifier/url/http://onlinelibrary.wiley.com/doi/10.1002/mus.21193/abstract
dc.relationinfo:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1002/mus.21193
dc.rightshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.subjectANTISENSE
dc.subjectASYMPTOMATIC DMD/BMD
dc.subjectDMD
dc.subjectDMD GENE THERAPY
dc.subjectDMD MOLECULAR DIAGNOSIS
dc.subjectMULTIPLE-EXON SKIPPING
dc.titleAsymptomatic Becker muscular dystrophy in a family with a multiexon deletion
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:ar-repo/semantics/artículo
dc.typeinfo:eu-repo/semantics/publishedVersion


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