Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype

Dominant mutations in the MYH7 and MYBPC3 genes are common causes of inherited cardiomyopathies, which often demonstrate variable phenotypic expression and incomplete penetrance across family members. Biallelic inheritance is rare but allows gaining insights into the genetic mode of action of single...

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Veröffentlicht in:	Human mutation 2019-08, Vol.40 (8), p.1101-1114, Article humu.23757
Hauptverfasser:	Kolokotronis, Konstantinos, Kühnisch, Jirko, Klopocki, Eva, Dartsch, Josephine, Rost, Simone, Huculak, Cathleen, Mearini, Giulia, Störk, Stefan, Carrier, Lucie, Klaassen, Sabine, Gerull, Brenda
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Alleles biallelic mutation Cardiac Myosins - genetics Cardiomyopathy Cardiomyopathy, Hypertrophic - genetics Carrier Proteins - genetics Copy number Female Genotype & phenotype Haploinsufficiency Heart Transplantation Heredity Humans Infant Isolated Noncompaction of the Ventricular Myocardium - genetics Isolated Noncompaction of the Ventricular Myocardium - therapy left ventricular noncompaction cardiomyopathy Loss of Function Mutation Male Mutation Mutation, Missense MYBPC3 MYH7 Myosin Heavy Chains - genetics Pedigree Phenotype Phenotypes Ventricle Young Adult
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