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.
· Frontiers in Pediatrics · 0 citations