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Genodiagnostics of Charcot-Marie-Toute disease

Average price: ≈184.2€
It is treated in 222 clinics
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Genodiagnostics of Charcot-Marie-Toute disease

Description

 Генодиагностика болезни Шарко-Мари-Тута направлена на обнаружение аберраций в генах, связанных с развитием патологии. В настоящее время известно более 50 генов, участвующих в механизмах возникновения наследственной прогрессирующей полинейропатии. Болезнь ШМТ 1-го типа чаще всего вызывается мутациями генов PMP22, MPZ, EGR2, GJB1. Дефекты MFN2 и DNM2 сопровождаются развитием болезни Шарко-Мари-Тута 2 типа.
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