Annotation: Primary mitochondrial diseases are clinically heterogeneous genetic disorders caused by defects in oxidative phosphorylation. While next-generation sequencing has become the first-line diagnostic approach, it frequently identifies Variants of Uncertain Significance (VUS) in candidate genes, representing a major bottleneck — diagnostic yield remains below 50% across most cohorts.

IPHYS contact: Tomáš Mráček, tomas.mracek@fgu.cas.cz