Frederik de Nassau died on March 1, in Paris, a day after internationally recognized Rare Disease Day, which takes place on ...

Mitochondrial diseases are a group of genetic disorders characterized by mutations in nuclear or mitochondrial DNA, causing a range of manifestations that can present at various times. This ...

Researchers from the Mitochondrial Medicine Program at Children's Hospital of Philadelphia (CHOP) have better characterized a spectrum of what were classically considered discrete mitochondrial DNA ...

Unfortunately, these disorders are difficult to identify because there is a lot of overlap with other disorders that have similar symptoms ... mitochondrial diseases in children and adults ...

All mitochondria in tissues with ΔmtDNA4696 showed normal COX activity until ΔmtDNA4696 accumulated predominantly; this prevented mice from expressing disease phenotypes. Moreover, we did not ...