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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發表在: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
格式: Artigo
語言:Inglês
出版: Nature Publishing Group 2015
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Article
在線閱讀: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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