Клинико-генетическая характеристика врожденных мышечных дистрофий (часть 2)
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
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
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
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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