Heterogeneity of Clinical Manifestation of Hypertrophic Cardiomyopathy Caused by Deletion of Lysine 183 in Cardiac Troponin I Gene Insight From Two Autopsy Cases With an Identical Sarcomeric Gene Mutation
Author:
Affiliation:
1. Division of Cardiovascular Medicine, Kanazawa University Graduate School of Medicine
2. Department of Internal Medicine, Wajima Municipal Hospital
3. Department of Human Pathology, Kanazawa University Graduate School of Medicine
Publisher
International Heart Journal (Japanese Heart Journal)
Subject
Cardiology and Cardiovascular Medicine,General Medicine
Link
http://www.jstage.jst.go.jp/article/ihj/51/3/51_3_214/_pdf
Reference19 articles.
1. 1. Kokado H, Shimizu M, Yoshio H, et al. Clinical features of hypertrophic cardiomyopathy caused by a Lys183 deletion mutation in the cardiac troponin I gene. Circulation 2000; 102: 663-9.
2. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy
3. Septal wall thinning and systolic dysfunction in patients with hypertrophic cardiomyopathy caused by a cardiac troponin I gene mutation
4. 4. Hughes SE. The pathology of hypertrophic cardiomyopathy. Histopathology 2004; 44: 412-27. (Review)
5. Hypertrophic Cardiomyopathy
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1. Vps34 regulates myofibril proteostasis to prevent hypertrophic cardiomyopathy;JCI Insight;2017-01-12
2. A Systematic Review of Phenotypic Features Associated With Cardiac Troponin I Mutations in Hereditary Cardiomyopathies;Canadian Journal of Cardiology;2015-11
3. Early Results of Sarcomeric Gene Screening from the Egyptian National BA-HCM Program;Journal of Cardiovascular Translational Research;2012-12-12
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