由新型变体转甲状腺素蛋白A36D引起的遗传性淀粉样变性心肌病。 - Suppr

Hereditary amyloidosis with cardiomyopathy caused by the novel variant transthyretin A36D.

作者信息

Yamashita Taro, Ueda Mitsuharu, Saga Nobuyuki, Nanto Kiyonori, Tasaki Masayoshi, Masuda Teruaki, Misumi Yohei, Oda Seitaro, Fujimoto Akiko, Amano Tomoko, Takamatsu Kotaro, Yamashita Satoshi, Obayashi Konen, Matsui Hirotaka, Ando Yukio

机构信息

a Department of Neurology , Graduate School of Medical Sciences, Kumamoto University , Kumamoto , Japan.

b Diagnostic Unit for Amyloidosis, Kumamoto University Hospital , Kumamoto , Japan.

出版信息

Amyloid. 2016 Sep;23(3):207-208. doi: 10.1080/13506129.2016.1202228. Epub 2016 Sep 20.

DOI:10.1080/13506129.2016.1202228

PMID:27646980

Abstract

摘要

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Hereditary amyloidosis with cardiomyopathy caused by the novel variant transthyretin A36D.

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Role of (99m)Tc-DPD scintigraphy in diagnosis and prognosis of hereditary transthyretin-related cardiac amyloidosis.

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引用本文的文献

Hereditary ATTR Amyloidosis with Cardiomyopathy Caused by the Novel Variant Transthyretin Y114S (p.Y134S).

Intern Med. 2019 Sep 15;58(18):2695-2698. doi: 10.2169/internalmedicine.2456-18. Epub 2019 Jun 7.

Genetic and clinical characteristics of hereditary transthyretin amyloidosis in endemic and non-endemic areas: experience from a single-referral center in Japan.

J Neurol. 2018 Jan;265(1):134-140. doi: 10.1007/s00415-017-8640-7. Epub 2017 Nov 24.

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Hereditary amyloidosis with cardiomyopathy caused by the novel variant transthyretin A36D.

作者信息

机构信息

a Department of Neurology , Graduate School of Medical Sciences, Kumamoto University , Kumamoto , Japan.

b Diagnostic Unit for Amyloidosis, Kumamoto University Hospital , Kumamoto , Japan.

出版信息

Amyloid. 2016 Sep;23(3):207-208. doi: 10.1080/13506129.2016.1202228. Epub 2016 Sep 20.

DOI:10.1080/13506129.2016.1202228

PMID:27646980

Abstract

摘要

相似文献

Hereditary amyloidosis with cardiomyopathy caused by the novel variant transthyretin A36D.

Amyloid. 2016 Sep;23(3):207-208. doi: 10.1080/13506129.2016.1202228. Epub 2016 Sep 20.

Extremely early onset hereditary ATTR amyloidosis with G47R (p.G67R) mutation.

Amyloid. 2016 Sep;23(3):205-206. doi: 10.1080/13506129.2016.1185410. Epub 2016 May 20.

Amyloid fibril composition is related to the phenotype of hereditary transthyretin V30M amyloidosis.

J Pathol. 2008 Oct;216(2):253-61. doi: 10.1002/path.2411.

A new ATTR Phe64Ile mutation with late-onset multiorgan involvement.

Amyloid. 2007 Dec;14(4):289-92. doi: 10.1080/13506120701614172.

Highly selective leptomeningeal amyloidosis with transthyretin variant Ala25Thr.

Neurology. 2009 Apr 14;72(15):1358-60. doi: 10.1212/WNL.0b013e3181a0fe74.

Familial amyloid cardiomyopathy masquerading as chronic Guillain-Barre syndrome: things are not always what they seem.

Front Med. 2017 Jun;11(2):293-296. doi: 10.1007/s11684-017-0516-9. Epub 2017 Apr 19.

Heart failure and cardiac involvement as isolated manifestation of familial form of transthyretin amyloidosis resulting from Val30Met mutation with no clinical signs of polyneuropathy.

Circ Heart Fail. 2009 Sep;2(5):512-5. doi: 10.1161/CIRCHEARTFAILURE.109.853697.

Role of (99m)Tc-DPD scintigraphy in diagnosis and prognosis of hereditary transthyretin-related cardiac amyloidosis.

JACC Cardiovasc Imaging. 2011 Jun;4(6):659-70. doi: 10.1016/j.jcmg.2011.03.016.

The pathologic spectrum of oculoleptomeningeal amyloidosis with Val30Gly transthyretin gene mutation in a postmortem case.

Hum Pathol. 2014 May;45(5):1105-8. doi: 10.1016/j.humpath.2013.10.037. Epub 2014 Jan 2.

[Hereditary amyloid cardiomyopathy related to a mutation at transthyretin protein number 111. A clinical, genetic and echocardiographic study of an affected Danish family].

Ugeskr Laeger. 1999 Sep 6;161(36):4995-9.

引用本文的文献

Hereditary ATTR Amyloidosis with Cardiomyopathy Caused by the Novel Variant Transthyretin Y114S (p.Y134S).

Intern Med. 2019 Sep 15;58(18):2695-2698. doi: 10.2169/internalmedicine.2456-18. Epub 2019 Jun 7.

Genetic and clinical characteristics of hereditary transthyretin amyloidosis in endemic and non-endemic areas: experience from a single-referral center in Japan.

J Neurol. 2018 Jan;265(1):134-140. doi: 10.1007/s00415-017-8640-7. Epub 2017 Nov 24.

Hereditary amyloidosis with cardiomyopathy caused by the novel variant transthyretin A36D.

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Hereditary amyloidosis with cardiomyopathy caused by the novel variant transthyretin A36D.

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