IHEM   20887
INSTITUTO DE HISTOLOGIA Y EMBRIOLOGIA DE MENDOZA DR. MARIO H. BURGOS
Unidad Ejecutora - UE
artículos
Título:
Asymptomatic Becker muscular dystrophy in a family with a multiexon deletion.
Autor/es:
FERREIRO, VERONICA; GILIBERTO, FLORENCIA; MUÑIZ GARCÍA, M. NOELIA; FRANCIPANE, LILIANA; MARZESE, DIEGO; MAMPEL, ALEJANDRA; ROQUÉ, MARÍA; FRECHTEL, GUSTAVO; SZIJAN, IRENE
Revista:
MUSCLE & NERVE
Editorial:
John Wiley & Sons Periodicals
Referencias:
Lugar: Wilmington, Estados Unidos; Año: 2009 vol. 39 p. 239 - 243
ISSN:
0148-639X
Resumen:
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.