Asymptomatic Becker Muscular Dystrophy in a Family with multiexon deletion

VERÓNICA FERREIRO, ; FLORENCIA GILIBERTO, ; GARCÍA M NOELIA MUÑIZ, ; LILIANA FRANCIPANE, ; DIEGO M MARZESE, ; ALEJANDRA MAMPEL, ; MARÍA ROQUÉ, ; GUSTAVO D FRECHTEL ; IRENE SZIJAN

MUSCLE & NERVE

JOHN WILEY & SONS INC

Año: 2008 vol. 39 p. 239 - 243

0148-639X

ABSTRACT: 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 ligationdependant 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.