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Genodiagnostics of rhabdomyolysis (myoglobinuria)

Average price: ≈731.6€
It is treated in 140 clinics
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Genodiagnostics of rhabdomyolysis (myoglobinuria)

Description

 Генодиагностика рабдомиолиза (миоглобинурии) включает целенаправленное выявление мутаций в гене LPIN1, расположенном в локусе 2p25.1. Ген LPIN1 кодирует белок под названием липин-1, роль которого заключается в обеспечении нормального развития жировой ткани и метаболизма триглицеридов. Острый рецидивирующий рабдомиолиз характеризуется миоглобинурией, мышечной слабостью, темной мочой и повышенным содержанием КФК в крови.
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