Due to the complexity of the mitochondrial system and the myriad genes involved in their function, the clinical manifestations of mitochondrial diseases are remarkably variable and heterogeneous. The laboratory and clinical methodologies...

Next Generation Sequencing von Wong, Lee-Jun C.

Mitochondrial cytopathies are mutations in the inherited maternal mitochondrial genome, or the nuclear DNA-mutation. Mitochondrial respiratory chain disorders (RCD) are a group of genetically and clinically heterogeneous diseases, due to...

Due to the complexity of the mitochondrial system and the myriad genes involved in their function, the clinical manifestations of mitochondrial diseases are remarkably variable and heterogeneous. The laboratory and clinical methodologies...