Asymptomatic Becker muscular dystrophy in a family with multiexon deletion

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

MUSCLE & NERVE

John Wiley and Sons.

Año: 2009 vol. 39 p. 239 - 243

0148-639X

We report a Becker muscular dystrophy (BMD) family with one 5-year-old affected patient and a 77-year-old asymptomatic grandfather. Dystrophin gene multiplex PCR and MLPA analysis showed that both males carry an in-frame deletion of exons 45-55. Molecular analysis of different tissues and elevated serum creatin kinase (CK), ruled out a germline mosaicism in the grandfather. Segregation analysis revealed two additional asymptomatic boys and four female carriers. Our finding supports previous predictions that exons 45-55 is the optimal multiexon skipping target in antisense gene therapy to transform the Duchenne muscular dystrophy (DMD) phenotype into the BMD, or even asymptomatic, phenotype.