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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)..
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The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease..
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Rius, R, Cowley, MJ, Riley, L, Puttick, C, Thorburn, DR, Christodoulou, J.
Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon..
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2019
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Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants..
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