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Нервно-мышечные болезни

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Наследственный транстиретиновый амилоидоз

https://doi.org/10.17650/2222-8721-2019-9-4-12-25

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Аннотация

Представлен обзор литературы по наследственному транстиретиновому амилоидозу: описаны структура и спектр мутаций гена TTR, структура и функции белка транстиретина, охарактеризованы основные клинические проявления транстиретинового амилоидоза, обсуждены вопросы дифференциальной диагностики, рассмотрена история распространения заболевания среди различных этнических групп, даны сведения о современных возможностях патогенетического и этиологического лечения заболевания.

Об авторах

Т. А. Адян
ФГБНУ «Медико-генетический научный центр имени академика Н. П. Бочкова» Минобрнауки России; ФГБОУ ВО «Российский национальный исследовательский медицинский университет имени Н. И. Пирогова» Минздрава России
Россия

Адян Тагуи Аветиковна

115522 Москва, Москворечье, 1; 117997 Москва, Островитянова, 1



А. В. Поляков
ФГБНУ «Медико-генетический научный центр имени академика Н. П. Бочкова» Минобрнауки России
Россия
115522 Москва, Москворечье, 1


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Для цитирования:


Адян Т.А., Поляков А.В. Наследственный транстиретиновый амилоидоз. Нервно-мышечные болезни. 2019;9(4):12-25. https://doi.org/10.17650/2222-8721-2019-9-4-12-25

For citation:


Adyan T.A., Polyakov A.V. Hereditary transthyretin amyloidosis. Neuromuscular Diseases. 2019;9(4):12-25. (In Russ.) https://doi.org/10.17650/2222-8721-2019-9-4-12-25

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