A novel point mutation (G-1 to T) in a 5' splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophy.

@article{Hagiwara1994ANP,
  title={A novel point mutation (G-1 to T) in a 5' splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophy.},
  author={Yoko Hagiwara and Hisahide Nishio and Yusuke Kitoh and Yasuhiro Takeshima and Naoko Narita and Hiroko Wada and Misako Yokoyama and H. Richard Nakamura and Masafumi Matsuo},
  journal={American journal of human genetics},
  year={1994},
  volume={54 1},
  pages={53-61}
}
The mutations in one-third of Duchenne and Becker muscular dystrophy patients remain unknown, as they do not involve gross rearrangements of the dystrophin gene. We now report a defect in the splicing of precursor mRNA (pre-mRNA), resulting from a maternally inherited mutation of the dystrophin gene in a patient with Becker muscular dystrophy. This defect results from a G-to-T transversion at the terminal nucleotide of exon 13, within the 5' splice site of intron 13, and causes complete… CONTINUE READING

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