An Italian family with Ala-47 transthyretin mutation associated with cardiomyopathy and polyneuropathy.

Solaro C; Schenone A; Di Sapio-A; Pradotto L; Mancardi GL; Primavera A; Mauro A

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An Italian family with Ala-47 transthyretin mutation associated with cardiomyopathy and polyneuropathy.

机译：一个意大利人，患有Ala-47转甲状腺素蛋白突变，与心肌病和多发性神经病有关。

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摘要

We describe two Italian first cousins with familial amyloidotic polyneuropathy associated with transthyretin variant consisting of the substitution of alanine for glycine at codon 47 (TTR Ala-47), from a family with a history of cardiac failure. The 40-year-old patient presented with autonomic dysfunction and the 44-year-old cousin with congestive heart failure. Both developed sensorimotor and autonomic polyneuropathy. Since a similar clinical picture has been described in another Italian family, the cardiac involvement must be regarded as a salient and early feature of the TTR Ala-47 mutation.

机译：我们描述了家族性淀粉样变性多神经病与转甲状腺素蛋白变异体相关的两个意大利第一堂兄弟姐妹，该家族成员由一个有心力衰竭史的家族组成，在第47位密码子（TTR Ala-47）上用丙氨酸替代甘氨酸。 40岁的病人表现出自主神经功能障碍，而44岁的表弟表现为充血性心力衰竭。都发展了感觉运动和自主神经性多发性神经病。由于在另一个意大利家庭中已经描述了类似的临床情况，因此必须将心脏受累视为TTR Ala-47突变的主要特征和早期特征。

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来源
《Neuromuscular disorders: NMD》 |2000年第1期|共4页
作者
Solaro C; Schenone A; Di Sapio-A; Pradotto L; Mancardi GL; Primavera A; Mauro A;
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正文语种 eng
中图分类神经病学与精神病学;
关键词
Mutation; Myocardial Diseases; Polyneuropathies genetics; Prealbumin; 突变; 心肌疾病; 前白蛋白;

机译：Mutation;Myocardial Diseases;Polyneuropathies genetics;Prealbumin;突变;心肌疾病;前白蛋白;

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1. An Italian family with Ala-47 transthyretin mutation associated with cardiomyopathy and polyneuropathy. [J] . Solaro C, Schenone A, Di Sapio-A, Neuromuscular disorders: NMD . 2000,第1期

机译：一个意大利人，患有Ala-47转甲状腺素蛋白突变，与心肌病和多发性神经病有关。
2. Response to the comment on ‘Molecular diagnosis of transthyretin Met30 mutation in an Italian family with familial amyloidotic polyneuropathy’ (G. Di Iorio, G. Sanges, S. Sampaolo, V. Bonavita) [J] . Strocchi Paolo FEBS Letters . 1996,第2a3期

机译：对“意大利家族性淀粉样变性多发性神经病家庭的甲状腺素转氨酶Met30突变的分子诊断”评论（G. Di Iorio，G。Sanges，S。Sampaolo，V。Bonavita）的评论
3. Molecular diagnosis of transthyretin Met30 mutation in an Italian family with familial amyloidotic polyneuropathy [J] . Cambi Franca, Strocchi Paola, Tang Xue-Ming FEBS Letters . 1995,第2a3期

机译：甲状腺家族性淀粉样变性多发性神经病家族中运甲状腺素蛋白Met30突变的分子诊断
4. A TRANSTHYRETIN MUTATION (V32A) IN AN ISRAELI PATIENT WITH AMYLOIDOTIC NEUROPATHY LOCALIZES TO A 3D MUTATION CLUSTER [C] . Y. Shinar, B Kaplan, C. Avisar, International Symposium on Amyloidosis . 2008

机译：在以色列患者中具有淀粉样蛋白神经病变的Transthyretin突变（V32A）定位于3D突变簇
5. Physiologic Studies of Familial Hypertrophic Cardiomyopathy-Related Mutations in Cardiac Troponin T. [D] . Jimenez, Jesus. 2013

机译：心肌肌钙蛋白T中家族性肥厚性心肌病相关突变的生理研究。
6. Proline at position 36: a new transthyretin mutation associated with familial amyloidotic polyneuropathy. [O] . L A Jones, J C Skare, J A Harding, 1991

机译：第36位的脯氨酸：与家族性淀粉样变性多发性神经病相关的新的运甲状腺素蛋白突变。
7. Response to the comment on ‘Molecular diagnosis of transthyretin Met30 mutation in an Italian family with familial amyloidotic polyneuropathy’ (G. Di Iorio, G. Sanges, S. Sampaolo, V. Bonavita) [O] . Strocchi Paolo 1996

机译：对“意大利家族性淀粉样变性多发性神经病家庭的甲状腺素转运蛋白Met30突变的分子诊断”评论（G. Di Iorio，G。Sanges，S。Sampaolo，V。Bonavita）的评论

An Italian family with Ala-47 transthyretin mutation associated with cardiomyopathy and polyneuropathy.

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