Asymptomatic Becker muscular dystrophy in a family with a multiexon deletion

We 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.

Palabras clave: Antisense , Asymptomatic Dmd/Bmd , Dmd , Dmd Gene Therapy , Dmd Molecular Diagnosis , Multiple-Exon Skipping

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Excepto donde se diga explícitamente, este item se publica bajo la siguiente descripción: Creative Commons Attribution-NonCommercial-ShareAlike 2.5 Unported (CC BY-NC-SA 2.5)

Identificadores

URI: http://hdl.handle.net/11336/80097

URL: http://onlinelibrary.wiley.com/doi/10.1002/mus.21193/abstract

DOI: http://dx.doi.org/10.1002/mus.21193

Colecciones

Articulos(IHEM)
Articulos de INST. HISTOLOGIA Y EMBRIOLOGIA DE MEND DR.M.BURGOS

Articulos(INGEBI)
Articulos de INST.DE INVEST.EN ING.GENETICA Y BIOL.MOLECULAR "DR. HECTOR N TORRES"

Articulos(OCA HOUSSAY)
Articulos de OFICINA DE COORDINACION ADMINISTRATIVA HOUSSAY

Citación

Ferreiro, 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

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