Article
An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype.
Human genetics - 1 Jun 2004
Cagliani Rachele, Sironi Manuela, Ciafaloni Emma, Bardoni Alessandra, Fortunato Francesco, Prelle Alessandro, Serafini Massimo, Bresolin Nereo, Comi Giacomo P
Abstract excerpt
Duchenne and Becker Muscular Dystrophy (DMD and BMD) are caused, in the majority of cases, by deletions in the dystrophin gene ( DMD). Here we describe the unprecedented case of a BMD patient carrying a large out-of-frame intragenic deletion, together with an inversion in the DMD gene, resulting in the inclusion of a novel exon in the transcript. Multiplex PCR amplification revealed the presence of a 48-52 exon...
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