CMR derived left ventricular septal convexity in carriers of the hypertrophic cardiomyopathy-causing MYBPC3-Q1061X mutation

CMR derived left ventricular septal convexity in carriers of the hypertrophic cardiomyopathy-causing MYBPC3-Q1061X mutation is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1038/S41598-019-42376-7
P932PMC publication ID6459818
P698PubMed publication ID30976029

P50authorJohanna KuusistoQ28516669
P2093author name stringPertti Jääskeläinen
Tiina Heliö
Petri Sipola
Kirsi Lauerma
Mika Laine
Mika Tarkiainen
Mikko Jalanko
Kati Kivelä
P2860cites workMutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern FinlandQ59409774
Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathyQ64283009
Hypertrophic cardiomyopathyQ84753761
Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderlyQ24292234
Structural characterization of the C3 domain of cardiac myosin binding protein C and its hypertrophic cardiomyopathy-related R502W mutantQ27694614
Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunctionQ28237729
Genetics of hypertrophic cardiomyopathy in eastern Finland: few founder mutations with benign or intermediary phenotypesQ28248327
Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiencyQ28250719
Lifelong left ventricular remodeling of hypertrophic cardiomyopathy caused by a founder frameshift deletion mutation in the cardiac Myosin-binding protein C gene among JapaneseQ28279418
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).Q33164685
Current perspectives in hypertrophic cardiomyopathy with the focus on patients in the Finnish population: a reviewQ33167509
Hypertrophic cardiomyopathy: a systematic reviewQ34117625
Abnormal septal convexity into the left ventricle occurs in subclinical hypertrophic cardiomyopathyQ35899352
Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiologyQ38584470
Cardiovascular magnetic resonance of mitral valve length in hypertrophic cardiomyopathyQ39711263
Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish populationQ43668587
Histological validation of cardiac magnetic resonance analysis of regional and diffuse interstitial myocardial fibrosis.Q45921977
Cine MR imaging of myocardial contractile impairment in patients with hypertrophic cardiomyopathy attributable to Asp175Asn mutation in the alpha-tropomyosin geneQ46598455
Echocardiography-guided genetic testing in hypertrophic cardiomyopathy: septal morphological features predict the presence of myofilament mutationsQ47874876
Left ventricular mechanical dispersion is associated with nonsustained ventricular tachycardia in hypertrophic cardiomyopathyQ48612809
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue1
P407language of work or nameEnglishQ1860
P304page(s)5960
P577publication date2019-04-11
P1433published inScientific ReportsQ2261792
P1476titleCMR derived left ventricular septal convexity in carriers of the hypertrophic cardiomyopathy-causing MYBPC3-Q1061X mutation
P478volume9

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