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Article

Primary ovarian insufficiency in RMND1 mitochondrial disease.

Mitochondrion - 1 Sept 2022

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

Abstract excerpt

RMND1 (Required for Meiotic Nuclear Division 1 homolog) is a nuclear encoded mitochondrial protein. Biallelic variants inRMND1are described in patients with white matter encephalopathy, hearing loss and renal dysfunction. In addition to this phenotype, two independent families (3 patients) have been reported with ovarian failure. We report on a 17-year-old girl with RMND1 related mitochondrial disorder including...

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PMID: 35901949
DOI: 10.1016/j.mito.2022.07.004

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