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Нервно-мышечные болезни

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Клинико-генетическая характеристика врожденных мышечных дистрофий (часть 2)

https://doi.org/10.17650/2222-8721-2020-10-2-12-21

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Аннотация

Дистрогликанопатии – одна из групп врожденных мышечных дистрофий, возникновение которых связано с нарушением гликозилирования α-дистрогликана. Сегодня известно 18 генов, ответственных за развитие этого состояния. Во 2-й части данного обзора представлены классификация, фенотипические формы, клинические признаки, патогенез и этиология данной формы врожденных мышечных дистрофий. Помимо этого, рассмотрены вопросы молекулярной диагностики врожденных мышечных дистрофий и предоставлены сведения о современных разработках терапии данной патологии.

Об авторах

П. А. Чаусова
ФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова» Министерства науки и высшего образования России
Россия

Полина Александровна Чаусова

115478 Москва, ул. Москворечье, 1

 



О. П. Рыжкова
ФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова» Министерства науки и высшего образования России
Россия

115478 Москва, ул. Москворечье, 1



А. В. Поляков
ФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова» Министерства науки и высшего образования России
Россия

115478 Москва, ул. Москворечье, 1



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Для цитирования:


Чаусова П.А., Рыжкова О.П., Поляков А.В. Клинико-генетическая характеристика врожденных мышечных дистрофий (часть 2). Нервно-мышечные болезни. 2020;10(2):12-21. https://doi.org/10.17650/2222-8721-2020-10-2-12-21

For citation:


Chausova P.A., Ryzhkova O.P., Polyakov A.V. Clinical and genetic characteristics of congenital muscular dystrophies (part 2). Neuromuscular Diseases. 2020;10(2):12-21. (In Russ.) https://doi.org/10.17650/2222-8721-2020-10-2-12-21

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ISSN 2413-0443 (Online)