Mitochondrial diseases are amongst the most genetically and phenotypically diverse groups
of inherited diseases. The vast phenotypic overlap with other disease entities together with …

Mitochondrial disease is hugely diverse with respect to associated clinical presentations and
underlying genetic causes, with pathogenic variants in over 300 disease genes currently …

Background Lack of functional evidence hampers variant interpretation, leaving a large
proportion of individuals with a suspected Mendelian disorder without genetic diagnosis …

Leigh Syndrome (OMIM 256000) is a heterogeneous neurologic disorder due to damage in
mitochondrial energy production that usually starts in early childhood. The first description …

The concept of a mitochondrial disorder was initially described in 1962, in a patient with
altered energy metabolism. Over time, mitochondrial energy metabolism has been …

Exome sequencing (ES) in the clinical setting of inborn metabolic diseases (IMDs) has
created tremendous improvement in achieving an accurate and timely molecular diagnosis …

Background No curative therapy for mitochondrial disease (MD) exists, prioritizing
supportive treatment for symptom relief. In animal and cell models ketones decrease …

Mitochondrial disorders are monogenic disorders characterized by a defect in oxidative
phosphorylation and caused by pathogenic variants in one of over 340 different genes. The …

Diagnostics for suspected mitochondrial disease (MD) can be challenging and necessitate
invasive procedures like muscle biopsy. This is due to the extremely broad genetic and …

Background Mitochondrial disorders are a group of rare diseases, caused by nuclear or
mitochondrial DNA mutations. Their marked clinical and genetic heterogeneity as well as …