Duchenne muscular dystrophy (DMD) is caused by frame-shift or nonsense mutations while its milder form, Becker muscular dystrophy (BMD) by in-frame or missense mutations. Puzzlingly, however, some patients with nonsense mutation in DMD gene 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 DMD gene in a large cohort of Japanese BMD patients.

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