Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6) metabolic disorders (CLPP GGPS1) and mtDNA maintenance/translation disorders (LARS2 TFAM).
ere we present eight families affected by Perrault syndrome. In five families we identified novel or previously reported variants in HSD17B4 LARS2 CLPP and C10orf2
We propose that decreased levels of mitochondrial proteases Lon and ClpP may allow heat shock protein 60 substrate proteins to go through more folding attempts
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