A deleterious MYH11 mutation causing familial thoracic aortic dissection View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-08-06

AUTHORS

Norifumi Takeda, Hiroyuki Morita, Daishi Fujita, Ryo Inuzuka, Yuki Taniguchi, Kan Nawata, Issei Komuro

ABSTRACT

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 for TAAD formation. More... »

PAGES

15028

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/hgv.2015.28

DOI

http://dx.doi.org/10.1038/hgv.2015.28

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1003653030

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/27081537


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