Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects

Familial hypertrophic cardiomyopathy (HCM) is usually caused by autosomal dominant pathogenic mutations in genes encoding sarcomeric or sarcomere-associated cardiac muscle proteins. The disease mainly affects adults, although young children with severe HCM have also been reported. We describe four u...

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Bibliografske podrobnosti
izdano v:Eur J Hum Genet
Main Authors: Wessels, Marja W, Herkert, Johanna C, Frohn-Mulder, Ingrid M, Dalinghaus, Michiel, van den Wijngaard, Arthur, de Krijger, Ronald R, Michels, Michelle, de Coo, Irenaeus FM, Hoedemaekers, Yvonne M, Dooijes, Dennis
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2015
Teme:
Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4463499/
https://ncbi.nlm.nih.gov/pubmed/25335496
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.211
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