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

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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

Автор, ответственный за переписку.
Email: NASchnaider@yandex.ru
Россия

Т. Я. Николаева

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

Email: fake@neicon.ru
Россия

Е. Н. Бороева

ГБУ «Республиканская больница № 1 – национальный центр медицины»

Email: fake@neicon.ru
Россия

Г. М. Пшенникова

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

Email: fake@neicon.ru
Россия

Н. В. Лугинов

ГБУ «Республиканская больница № 2 – центр экстренной медицинской помощи», Якутск

Email: fake@neicon.ru
Россия

Ю. С. Панина

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

Email: fake@neicon.ru
Россия

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© Шнайдер Н.А., Николаева Т.Я., Бороева Е.Н., Пшенникова Г.М., Лугинов Н.В., Панина Ю.С., 2013

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