Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: A novel mechanism of neonatal dilated cardiomyopathy

Neonatal heart failure is a rare, poorly-understood presentation of familial dilated cardiomyopathy (DCM). Exome sequencing in a neonate with severe DCM revealed a homozygous nonsense variant in leiomodin 2 (LMOD2, p.Trp398*). Leiomodins (Lmods) are actin-binding proteins that regulate actin filamen...

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Detaylı Bibliyografya
Yayımlandı:Sci Adv
Asıl Yazarlar: Ahrens-Nicklas, Rebecca C., Pappas, Christopher T., Farman, Gerrie P., Mayfield, Rachel M., Larrinaga, Tania M., Medne, Livija, Ritter, Alyssa, Krantz, Ian D., Murali, Chaya, Lin, Kimberly Y., Berger, Justin H., Yum, Sabrina W., Carreon, Chrystalle Katte, Gregorio, Carol C.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Association for the Advancement of Science 2019
Konular:
Research Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6726455/
https://ncbi.nlm.nih.gov/pubmed/31517052
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/sciadv.aax2066
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