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Нервно-мышечные болезни

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Конечностно-поясная мышечная дистрофия с аутосомно- доминантным типом наследования: пельвиофеморальная форма Лейдена–Мебиуса


https://doi.org/10.17650/2222-8721-2013-0-1-46-61

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Аннотация

В статье рассматриваются современные подходы к клинико-лабораторной диагностике конечностно-поясной мышечной дистрофии с акцентом на аутосомно-доминантные формы заболевания. Авторами представлено собственное клиническое наблюдение случая с поздней диагностикой пельвиофеморальной формы конечностно-поясной мышечной дистрофии с аутосомно-доминантным типом наследования у пациентки 37 лет. 

Об авторах

Н. А. Шнайдер
ГБОУ ВПО «Красноярский ГМУ им. проф. В.Ф. Войно-Ясенецкого» Минздрава России
Россия


Т. Я. Николаева
ФГАОУ ВПО «Северо-Восточный федеральный университет им. М.К. Аммосова» Минобрнауки России
Россия


Е. Н. Бороева
ГБУ «Республиканская больница № 1 – национальный центр медицины»
Россия


Г. М. Пшенникова
ФГАОУ ВПО «Северо-Восточный федеральный университет им. М.К. Аммосова» Минобрнауки России
Россия


Н. В. Лугинов
ГБУ «Республиканская больница № 2 – центр экстренной медицинской помощи», Якутск
Россия


Ю. С. Панина
ГБОУ ВПО «Красноярский ГМУ им. проф. В.Ф. Войно-Ясенецкого» Минздрава России
Россия


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Для цитирования:


Шнайдер Н.А., Николаева Т.Я., Бороева Е.Н., Пшенникова Г.М., Лугинов Н.В., Панина Ю.С. Конечностно-поясная мышечная дистрофия с аутосомно- доминантным типом наследования: пельвиофеморальная форма Лейдена–Мебиуса. Нервно-мышечные болезни. 2013;(1):46-61. https://doi.org/10.17650/2222-8721-2013-0-1-46-61

For citation:


Shnayder N.A., Nikolayeva T.Y., Boroeva E.N., Pshennikova G.M., Luginov N.V., Panina Y.S. Autosomal dominant limb-girdle muscular dystrophy: Leyden–Möbius pelvifemoral form. Neuromuscular Diseases. 2013;(1):46-61. (In Russ.) https://doi.org/10.17650/2222-8721-2013-0-1-46-61

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