Art

J-GLOBAL ID：201002283175927810   Reference number：10A0660523

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

心臓トロポニンI遺伝子におけるリジン183の欠失によって引き起こされた肥大型心筋症の臨床症状発現の多様性 同一の筋板遺伝子変異をもつ2つの剖検例からの洞察

Author (10)： FUNADA Akira (Div. of Cardiovascular Medicine, Kanazawa Univ. Graduate School of Medicine) ,  MASUTA Eiichi (Div. of Cardiovascular Medicine, Kanazawa Univ. Graduate School of Medicine) ,  FUJINO Noboru (Div. of Cardiovascular Medicine, Kanazawa Univ. Graduate School of Medicine) ,  HAYASHI Kenshi (Div. of Cardiovascular Medicine, Kanazawa Univ. Graduate School of Medicine) ,  INO Hidekazu (Div. of Cardiovascular Medicine, Kanazawa Univ. Graduate School of Medicine) ,  KITA Yoshihito (Dep. of Internal Medicine, Wajima Municipal Hospital) ,  IKEDA Hiroko (Dep. of Human Pathology, Kanazawa Univ. Graduate School of Medicine) ,  FUJII Takahiko (Dep. of Human Pathology, Kanazawa Univ. Graduate School of Medicine) ,  NAKANUMA Yasuni (Dep. of Human Pathology, Kanazawa Univ. Graduate School of Medicine) ,  YAMAGISHI Masakazu (Div. of Cardiovascular Medicine, Kanazawa Univ. Graduate School of Medicine)
Material： International Heart Journal  (Int Heart J)
Volume： 51  Issue： 3  Page： 214-217 (J-STAGE)  Publication year： 2010 
JST Material Number： Z0752A  ISSN： 1349-2365  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： *Troponin ,...
Semi thesaurus term： *genetic variation

Register(free) or Log In to access     To see more with JDream III (charged).   {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=10A0660523&from=J-GLOBAL&jstjournalNo=Z0752A") }}

JST classification (2)： Cardiovascular system diagnosis  (GJ02000V) ,  Clinical medicine on cardiovascular system in general  (GJ01030V)

Reference (19)：

• 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. Kimura A, Harada H, Park JE, et al. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet 1997; 16: 379-82.
• 3. Shimizu M, Ino H, Okeie K, et al. Septal wall thinning and systolic dysfunction in patients with hypertrophic cardiomyopathy caused by a cardiac troponin I gene mutation. Am Heart J 2002; 143: 690-5.
• 4. Hughes SE. The pathology of hypertrophic cardiomyopathy. Histopathology 2004; 44: 412-27. (Review)
• 5. Richard P, Charron P, Carrier L, et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 2003; 107: 2227-32.

Terms in the title (12)： 心臓 ,  トロポニンI ,  遺伝子 ,  リジン ,  欠失 ,  肥大型心筋症 ,  臨床 ,  症状発現 ,  多様性 ,  遺伝子変異 ,  剖検 ,  洞察