A deleterious MYH11 mutation causing familial thoracic aortic dissection

@inproceedings{Takeda2015ADM,
  title={A deleterious MYH11 mutation causing familial thoracic aortic dissection},
  author={Norifumi Takeda and Hiroyuki Morita and Daishi Fujita and Ryo Inuzuka and Yuki Taniguchi and Kan Nawata and Issei Komuro},
  booktitle={Human Genome Variation},
  year={2015}
}
The L1264P and R1275L heterozygous mutations of the myosin heavy chain 11 (MYH11) gene, which are on the same allele, have been reported to cause thoracic aortic aneurysms and/or dissections (TAAD) complicated with patent ductus arteriosus (PDA); however, their contributions to the pathogenesis of TAAD/PDA have not been elucidated. Here we report the first familial case of TAAD with only a MYH11 L1264P mutation, in which PDA was not observed, indicating that L1264P, not R1275L, is responsible… CONTINUE READING

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