Mitochondrial disease is a challenging area of genetics because two distinct genomes can
contribute to disease pathogenesis. It is also challenging clinically because of the myriad of …

The aim of this review was to provide an evidence-based approach to frequently asked
questions relating to the risk of transmitting a maternally inherited mitochondrial disorder …

Mitochondrial dysfunctions are known to be responsible for a number of heterogenous
clinical presentations with multi-systemic involvement. Impaired oxidative phosphorylation …

Mitochondrial DNA (mtDNA) mutations cause a wide range of serious diseases with high
transmission risk and maternal inheritance. Tissue heterogeneity of the heteroplasmy rate …

Background Mitochondrial or oxidative phosphorylation diseases are relatively frequent,
multisystem disorders; in about 15% of cases they are caused by maternally inherited …

Background Severe, disease-causing germline mitochondrial (mt) DNA mutations are
maternally inherited or arise de novo. Strategies to prevent transmission are generally …

Expanded carrier screening (ECS) entails a screening offer for carrier status for multiple
recessive disorders simultaneously and allows testing of couples or individuals regardless …

BACKGROUND Mitochondrial disorders are often fatal multisystem disorders, partially
caused by heteroplasmic mitochondrial DNA (mtDNA) point mutations. Prenatal diagnosis is …

Recent reports of strong selection of mitochondrial DNA (mtDNA) during transmission in
animal models of mtDNA disease, and of nuclear transfer in both animal models and …

Mitochondrial diseases affect> 1 in 7500 live births and may be due to mutations in either
mitochondrial DNA (mtDNA) or nuclear DNA (nDNA). Genetic counselling for families with …