Biopolym. Cell. 1995; 11(3-4):5-23.
Молекулярно-генетичні аспекти м'язової дистрофії Дюшенна
1Гришко В. І., 1Лівшиць Л. А.
  1. Інститут молекулярної біології і генетики НАН України
    Вул. Академіка Заболотного, 150, Київ, Україна, 03680

Abstract

М'язова дистрофія Дюшенна (МДД) – Х-зчеплене рецесивне захворювання, пов'язане з прогресуючим ураженням м'язів. Зустрічається з частотою 1 : 3500 дітей чоловічої статі. У представленому огляді наведено сучасні відомості про структуру і локаліза­цію гена МДД, спектр мутацій, а також характеристика його білкового продукту – дистрофіна. Обговорюється методологія ДНК-діагностики і підходи до генотерапії МДД.

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