Article
Prenatal diagnosis of Duchenne/Becker muscular dystrophy by short tandem repeat segregation analysis in Argentine families.
Muscle & nerve - 1 Apr 2011
Giliberto Florencia, Ferreiro Verónica, Massot Francisco, Ferrer Marcela, Francipane Liliana, Szijan Irene
Abstract excerpt
INTRODUCTION: Duchenne/Becker muscular dystrophies (DMD/BMD) are X-linked recessive diseases caused by mutations in the dystrophin gene. METHODS: We used multiplex polymerase chain reaction (PCR) and short tandem repeat (STR) segregation analysis for DMD/BMD-carrier detection and prenatal diagnosis. RESULTS: Twenty-four at-risk pregnancies were evaluated: 17 were excluded from carrying dystrophin gene mutations...
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