Molecular Diagnostics of Duchenne/Becker Muscular Dystrophy Patients by Multiplex Ligation-Dependent Probe Amplification Analysis and Direct Sequencing
Abstract:Duchenne/Becker muscular dystrophy (DMD/ BMD), the most common X-linked muscular dystrophy is caused by mutations in the enormously large DMD gene. We screened this gene in 51 unrelated Bulgarian DMD/BMD patients and four families with no living index patient available, by multiplex ligation-dependent probe amplification (MLPA) analysis, which is a powerful tool for detecting deletion/duplication along the DMD gene. This, in combination with direct sequencing, characterized the mutation in all patients, which … Show more
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