info:eu-repo/semantics/article
Asymptomatic Becker muscular dystrophy in a family with a multiexon deletion
Fecha
2009-02Registro en:
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
0148-639X
CONICET Digital
CONICET
Autor
Ferreiro, Verónica
Giliberto, Florencia
Muñiz García, María Noelia
Francipane, Liliana
Marzese, Diego Matías
Mampel, Alejandra
Roqué, María
Frechtel, Gustavo Daniel
Szijan, Irena
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.