Мышечная дистрофия, связанная с геном DMD, у женщин

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Дистрофинопатии – спектр Х-сцепленных мышечных заболеваний, связанных с патогенными/вероятно патогенными вариантами в гене дистрофина (DMD). Как правило, заболевание развивается у лиц мужского пола, однако случаи проявления симптомов описаны и у женщин. В обзоре представлены современные данные о проявлениях дистрофинопатий у женщин с патогенными вариантами в гене DMD, причины разной степени выраженности симптомов заболевания у женщин – носительниц патогенных/вероятно патогенных генетических вариантов. Обсуждается значимость поиска мутаций в гене DMD у женщин с симптомами мышечной дистрофии и исследования статуса носительства у родственниц пациентов с мышечной дистрофией Дюшенна/Беккера.

Об авторах

Е. О. Воронцова

ФГБНУ «Медико-генетический научный центр им. акад. Н.П. Бочкова»

Автор, ответственный за переписку.
Email: vorontsova.eo@mail.ru
ORCID iD: 0000-0003-2291-6485

Екатерина Олеговна Воронцова

115522 Москва, ул. Москворечье, 1

Россия

Е. В. Зинина

ФГБНУ «Медико-генетический научный центр им. акад. Н.П. Бочкова»

Email: fake@neicon.ru
ORCID iD: 0000-0001-5017-7996

115522 Москва, ул. Москворечье, 1

Россия

О. А. Щагина

ФГБНУ «Медико-генетический научный центр им. акад. Н.П. Бочкова»

Email: fake@neicon.ru
ORCID iD: 0000-0003-4905-1303

115522 Москва, ул. Москворечье, 1

Россия

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