Disclaimer: Supplementary materials have been peer-reviewed but not copyedited.


Figure S1. Distribution of mtDAN haplogroups in the 3,242 patients with Suspected Mitochondrial disorders.

Table S1A. Novel changes in the rRNA genes detected from the mtWGS cohort.

Table S1B. Novel Changes in the tRNA Genes Detected from the mtWGS Cohort

Table S1C. Novel Missense or Small in-Frame Indel Changes in the Mitochondrial Protein-Coding Genes Detected from the mtWGS Cohort

Table S2. Analyses of the Nuclear Genes Involved in Mitochondrial DNA Synthesis and Maintenance in the 32 Patients with mtDNA Multiple Deletions in their Muscle Specimen Detected by mtScreen

Table S3. Distribution of Detected Point Mutations in Protein-Coding, rRNA, and tRNA Genes from Our Large Cohort

Table S4. mtDNA Haplogroup Information

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