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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Publicado no:Sci Adv
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: American Association for the Advancement of Science 2019
Assuntos:
Research Articles
Acesso em linha: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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