Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene

BACKGROUND: Idiopathic (primary) hypertrophic cardiomyopathy (HCM) is mainly caused by mutations in genes encoding sarcomeric proteins. One of the most commonly mutated HCM genes is the myosin binding protein C (MYBPC3) gene. Mutations in this gene lead mainly to truncation of the protein which give...

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Kaydedildi:
Detaylı Bibliyografya
Asıl Yazarlar: Deprez, R H Lekanne, Muurling‐Vlietman, J J, Hruda, J, Baars, M J H, Wijnaendts, L C D, Stolte‐Dijkstra, I, Alders, M, van Hagen, J M
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BMJ Group 2006
Konular:
Letter to JMG
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC2563166/
https://ncbi.nlm.nih.gov/pubmed/16679492
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.040329
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