Primary ovarian insufficiency in RMND1 mitochondrial disease

E Boros, F Elilié Mawa Ongoth,C Heinrichs, A L Mansbach,S Seneca, A Aeby, K Ismaïli,C Brachet

Mitochondrion（2022）

引用 3|浏览2

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摘要

•RMND1 pathogenic variants cause a generalized mitochondrial translation defect.•SHL, neurological phenotype, renal impairment and POI in females is known as Perrault syndrome.•This report reinforces the evidence for the link between mitochondrial and ovarian functions.

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关键词

RMND1,Primary Ovarian Insufficiency,Mitochondria,Ovarian Failure,Perrault syndrome

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