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Yin-Yin Wu

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Open access Sep 2026

Clinical and genetic analysis of multiple mitochondrial dysfunctions syndrome type 6 caused by biallelic PMPCB variants in children

The variant spectrum of PMPCB-related MMDS6 is expanded and the potential pathogenic mechanism of PMPCB gene variants is revealed, preliminary speculate that PMPCB might be a critical upstream regulator of FXN maturation.

Yin-Yin Wu, Ji-Hong Tang, Li-Ya Zhang et al. · 0 citations

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