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Asymptomatic Becker muscular dystrophy in a family with a multiexon deletion
Author(s) -
Ferreiro Verónica,
Giliberto Florencia,
Muñiz García M. Noelia,
Francipane Liliana,
Marzese Diego M.,
Mampel Alejandra,
Roqué María,
Frechtel Gustavo D.,
Szijan Irene
Publication year - 2009
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21193
Subject(s) - asymptomatic , muscular dystrophy , multiplex ligation dependent probe amplification , medicine , duchenne muscular dystrophy , exon , asymptomatic carrier , dystrophin , genetics , gene , biology
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. Muscle Nerve, 2008