An example of a phenocopy is Leigh syndrome, which can be due to several different mutations. Although symptoms of a mitochondrial disease vary greatly, they might include: Over recent years ...

Researchers have developed a new blood test capable of rapidly diagnosing rare genetic diseases in babies and children.

A new rapid blood test for newborns could potentially detect genetic mutations linked to thousands of rare diseases all at ...

Background Leigh syndrome is a phenotypically and genetically heterogeneous mitochondrial disorder. While some genetic defects are associated with well-described phenotypes, phenotype-genotype ...

and other chronic health issues Leigh syndrome, a severe neurological disorder that usually presents symptoms in the first year of life There are no exact estimates of the number of people with MELAS.

both those associated with alterations in mitochondrial DNA, which include Leigh disease, Kearns Sayer syndrome, mitochondrial encephalopathy lactic acidosis and stroke-like episodes, mitochondrial ...

New research published in Nature Communications into hidden mutations in mitochondrial DNA has uncovered how high mutational ...

Patients with rare mitochondrial diseases already face a host of serious health issues, from muscle weakness to neurological ...

Mitochondria turn the food we eat into the energy our cells can use. But when stress hijacks the process they use to maintain ...

They turn the food we eat into the energy our cells can use. But when stress hijacks the process they use to maintain their ...