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...

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:Sci Adv
Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: American Association for the Advancement of Science 2019
Ämnen:
Research Articles
Länkar: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
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk