Fig. 2.

Distribution of mitochondrial DNA pathogenic variants (total 72). The absolute number of cases are shown in parentheses. Others (1.4%/1 patient each): m.10197G>A, m.11778G>A, m.8622delC, m.3946G>A, m.13052G>A. Within these mtDNA pathogenic variants, m.3946G>A, m.13094T>C, and m.13052G>A are not included in the hotspots analyses in several public hospitals. MtDNA deletion also cannot be tested by hotspot analyses. Therefore, total 12 patients (16.7% of total) cannot be identified by hotspot analyses alone