A compound T60A and V122I heterozygosity in the transthyretin gene causing early onset severe cardiac amyloidosis

LiuY.-C.; ReddiH.V.; WaheedS.; AlapatD.; HighsmithW.E.; EdmondsonR.D.; BarlogieB.; VanRheeF.

首页> 外文期刊>Amyloid: the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis >A compound T60A and V122I heterozygosity in the transthyretin gene causing early onset severe cardiac amyloidosis

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A compound T60A and V122I heterozygosity in the transthyretin gene causing early onset severe cardiac amyloidosis

机译：运甲状腺素蛋白基因中的化合物T60A和V122I杂合导致早期发作的严重心脏淀粉样变性

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We would like to report a 49-year-old African-American woman who was referred for worsening of heart failure, which was diagnosed at the age of 44 at a local cardiac clinic when presenting with exertional dyspnea. No neurologic impairment or ocular lesion was found. Past history included pulmonary embolism and hypertension. No known cardiac disease or amyloidosis was present in her family. Restrictive hypertrophic cardiomyopathy was noted by echocardiography and workup did not show anemia, proteinuria, renal function impairment or monoclonal gammopathy. Abdominal fat pad biopsy was negative by Congo red stain.

机译：我们想报告一名因心力衰竭加重而被转介的49岁非裔美国人妇女，该妇女在劳累性呼吸困难时在当地心脏诊所诊断为44岁。未发现神经系统损害或眼部病变。既往史包括肺栓塞和高血压。她的家人中没有已知的心脏病或淀粉样变性病。超声心动图检查发现限制性肥厚型心肌病，检查未显示贫血，蛋白尿，肾功能损害或单克隆丙种球蛋白病。刚果红染色显示腹部脂肪垫活检阴性。

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《Amyloid: the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis》 |2014年第2期|共2页
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LiuY.-C.; ReddiH.V.; WaheedS.; AlapatD.; HighsmithW.E.; EdmondsonR.D.; BarlogieB.; VanRheeF.;
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1. A compound T60A and V122I heterozygosity in the transthyretin gene causing early onset severe cardiac amyloidosis [J] . LiuY.-C., ReddiH.V., WaheedS., Amyloid: the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis . 2014,第2期

机译：运甲状腺素蛋白基因中的化合物T60A和V122I杂合导致早期发作的严重心脏淀粉样变性
2. Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the african american population in the seventh decade of life [J] . ReddiH.V., JenkinsS., TheisJ., The Journal of molecular diagnostics: JMD . 2014,第1期

机译：运甲状腺素蛋白中V122I突变的纯合性与生命的第七个十年中非洲裔美国人群心脏淀粉样变性病的早期发作有关
3. A Case of Severe Early-Onset Neuropathy Caused by a Compound Heterozygous Deletion of the PMP22 Gene: Clinical and Neurographic Aspects [J] . DArrigo Stefano, Tessarollo Valeria, Taroni Franco, Neuropediatrics . 2020,第3期

机译：由PMP22基因的复合杂合缺失引起的严重早起神经病变的情况：临床和神经扫描方面
4. A CASE OF COMPOUND HETEROZYGOSITY IN A NIGERIAN MALE WITH IDENTIFICATION oF A NEW TRANSTHYRETIN VARIANT PHE44LEU AND VAL122ILE [C] . T. Barry, T. Prokaeva, P. Soohoo, International Symposium on Amyloidosis . 2008

机译：尼日利亚男性中复合杂合性的情况，具有新的Transthyretin变体PHE44LEU和VAL122ile的鉴定
5. The Role of Non-Coding Genetic Variants on Transthyretin Gene Transcription in Transthyretin Amyloidosis [D] . Boldbaatar, Batbold. 2022

机译：非编码遗传变异在促甲肾上腺素淀粉样蛋白症中的Transthyretin基因转录中的作用
6. Pressure-Volume Relationships in Patients With Transthyretin (ATTR) Cardiac Amyloidosis Secondary to V122I Mutations and Wild-Type Transthyretin Transthyretin Cardiac Amyloid Study (TRACS) [O] . Taslima Bhuiyan, Stephen Helmke, Ayan R. Patel, -1

机译：促进胰岛素（attr）心肌淀粉样蛋白患者患者的压力量关系伴有V122I突变和野生型Transthyretin Transthyretin心脏淀粉样蛋白研究（Tracs）
7. Aged Onset of Amyloidosis Caused by Transthyretin Gene Mutations. [O] . Masamitsu Nakazato, Shigeru Matsukura 2001

机译：Transthyretin基因突变引起的淀粉样蛋白病的衰老。

A compound T60A and V122I heterozygosity in the transthyretin gene causing early onset severe cardiac amyloidosis

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