Duchenne muscular dystrophy is caused by frame-shift or nonsense mutation in the DMD gene, while its milder form, Becker muscular dystrophy (BMD) by in-frame deletion/duplication or missense mutations. Puzzlingly, however, some patients with nonsense mutation are known to show BMD phenotypes and its mechanism is attributed to the skipping of the exon containing the nonsense mutation, resulting in in-frame deletion. Nevertheless, there were only a few reports describing such cases. To clarify molecular consequences of nonsense mutations in the DMD gene in a large cohort of Japanese BMD patients.

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