title: Asymptomatic Becker muscular dystrophy in a family with a multiexon deletion.
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 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.
authors.affiliation: Genetics Division, Clinical Hospital "José de San Martín," University of Buenos Aires, 2250 Paraguay, 1120 Buenos Aires, Argentina. vferreiro@ffyb.uba.ar
authors.forename: Verónica
authors.initials: V
authors.lastname: Ferreiro
authors.forename: Florencia
authors.initials: F
authors.lastname: Giliberto
authors.forename: García M Noelia
authors.initials: GM
authors.lastname: Muñiz
authors.forename: Liliana
authors.initials: L
authors.lastname: Francipane
authors.forename: Diego M
authors.initials: DM
authors.lastname: Marzese
authors.forename: Alejandra
authors.initials: A
authors.lastname: Mampel
authors.forename: María
authors.initials: M
authors.lastname: Roqué
authors.forename: Gustavo D
authors.initials: GD
authors.lastname: Frechtel
authors.forename: Irene
authors.initials: I
authors.lastname: Szijan
mesh_terms: D000368:Aged; D002675:Child, Preschool; D016189:Dystrophin / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005192:Family Health; D005260:Female; D018628:Gene Dosage; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D017421:Sequence Analysis; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D016189:Dystrophin