Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy
Abstract
Duchenne muscular dystrophy (DMD) is caused by a nonsense or frameshift mutation in the DMD gene, while its milder form, Becker muscular dystrophy (BMD) is caused by an in-frame deletion/duplication or a missense mutation. Interestingly, however, some patients with a nonsense mutation exhibit BMD phenotype, which is mostly attributed to the skipping of the exon containing the nonsense mutation, resulting in in-frame deletion. This study aims to...
Paper Details
Title
Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy
Published Date
Jan 9, 2020
Journal
Volume
139
Issue
2
Pages
247 - 255
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