id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_na5wx5h3abdz3gycwrgesskk2y	Marja W Wessels	Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects	2014.0	7	.pdf	application/pdf	6068	754	60	Familial hypertrophic cardiomyopathy (HCM) is usually caused by autosomal dominant pathogenic mutations in genes encoding All patients with biallelic truncating pathogenic mutations in MYBPC3 reported so far (n = 21) were diagnosed with severe truncating pathogenic MYBPC3 mutations cause severe neonatal cardiomyopathy with features of left ventricular noncompaction Abbreviations: ASD, atrial septal defect; ECG, electrocardiography; HCM, hypertrophic cardiomyopathy; IVS, intraventricular septum; LV, left ventricle; LVNC, left ventricular noncompaction; to compound heterozygosity or homozygosity for pathogenic truncating mutations in the MYBPC3 gene. cMore severe HCM and a higher incidence of myectomy compared with patients with single pathogenic MYBPC3 mutations.15 Few neonatal cases with severe cardiomyopathy owing to homozygous or compound heterozygous truncating pathogenic mutations MYBPC3 mutations among familial hypertrophic cardiomyopathy patients in India. Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects	./cache/work_na5wx5h3abdz3gycwrgesskk2y.pdf	./txt/work_na5wx5h3abdz3gycwrgesskk2y.txt