Founder Mutation in N Terminus of Cardiac Troponin I Causes Malignant Hypertrophic Cardiomyopathy

Founder Mutation in N Terminus of Cardiac Troponin I Causes Malignant Hypertrophic Cardiomyopathy

<h3>Background</h3><p dir="ltr">Cardiac troponin I (<i>TNNI3</i>) gene mutations account for 3% of hypertrophic cardiomyopathy and carriers have a heterogeneous phenotype, with increased risk of sudden cardiac death (SCD). Only one mutation (p.Arg21Cys) has be...

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محفوظ في:
التفاصيل البيبلوغرافية
المؤلف الرئيسي: Akl C. Fahed (11514346) (author)
مؤلفون آخرون: Georges Nemer (295984) (author), Fadi F. Bitar (19239475) (author), Samir Arnaout (6339863) (author), Antoine B. Abchee (19686070) (author), Manal Batrawi (19686073) (author), Athar Khalil (5906330) (author), Ossama K. Abou Hassan (18618628) (author), Steven R. DePalma (9667007) (author), Barbara McDonough (6821369) (author), Mariam T. Arabi (19686076) (author), James S. Ware (7759880) (author), Jonathan G. Seidman (6834896) (author), Christine E. Seidman (6834899) (author)
منشور في: 2020
الموضوعات:
Biological sciences
Genetics
Biomedical and clinical sciences
Cardiovascular medicine and haematology
cardiomyopathy
hypertrophic
death
sudden
cardiac
disease
mutation
risk
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