Academic Journal
Familial amyloid polyneuropathy TTR Cys 114 in monozygotic twin brothers (clinical case)
| العنوان: | Familial amyloid polyneuropathy TTR Cys 114 in monozygotic twin brothers (clinical case) |
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| المؤلفون: | M. O. Kovalchuk, I. A. Strokov |
| المصدر: | Нервно-мышечные болезни, Vol 7, Iss 1, Pp 54-61 (2017) |
| بيانات النشر: | ABV-press, 2017. |
| سنة النشر: | 2017 |
| المجموعة: | LCC:Neurology. Diseases of the nervous system |
| مصطلحات موضوعية: | amyloidosis, transthyretin amyloidosis, attr cys 114, familial amyloid polyneuropathy, monozygotic twins, discordance, nongenetic factors, Neurology. Diseases of the nervous system, RC346-429 |
| الوصف: | Transthyretin amyloidosis (ATTR) is a hereditary autosomal dominant disease. Its symptoms depend on polymorphisms of the transthyretin gene and include disorders of the peripheral nervous system and internal organs. One of the rarest mutations of the transthyretin gene is tyrosine substitution for cysteine in position 114 (Tyr114Cys). One of the described characteristics of ATTR is the discordant phenotype in monozygotic twins. We present a case of ATTR Cys 114 in a Russian family with a pair of monozygotic twins discordant for ATTR. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | Russian |
| تدمد: | 2222-8721 2413-0443 |
| Relation: | https://nmb.abvpress.ru/jour/article/view/198; https://doaj.org/toc/2222-8721; https://doaj.org/toc/2413-0443 |
| DOI: | 10.17650/2222-8721-2017-7-1-54-61 |
| URL الوصول: | https://doaj.org/article/975c1a65fd734b5790b1a26c3f0fa158 |
| رقم الانضمام: | edsdoj.975c1a65fd734b5790b1a26c3f0fa158 |
| قاعدة البيانات: | Directory of Open Access Journals |
| تدمد: | 22228721 24130443 |
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| DOI: | 10.17650/2222-8721-2017-7-1-54-61 |