Article
Chemical treatment enhances skipping of a mutated exon in the dystrophin gene.
Nature communications - 1 Jan 2011
Nishida Atsushi, Kataoka Naoyuki, Takeshima Yasuhiro, Yagi Mariko, Awano Hiroyuki, Ota Mitsunori, Itoh Kyoko, Hagiwara Masatoshi, Matsuo Masafumi
Abstract excerpt
Duchenne muscular dystrophy (DMD) is a fatal muscle wasting disease caused by a loss of the dystrophin protein. Control of dystrophin mRNA splicing to convert severe DMD to a milder phenotype is attracting much attention. Here we report a dystrophinopathy patient who has a point mutation in exon 31 of the dystrophin gene. Although the mutation generates a stop codon, a small amount of internally deleted, but...
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