Mitochondrial diseases are clinically heterogeneous disorders caused by a wide spectrum
of mutations in genes encoded by either the nuclear or the mitochondrial genome …

Mitochondrial diseases are some of the most common inherited neurometabolic disorders,
and major progress has been made in our understanding, diagnosis, and treatment of these …

Telomere length in humans is associated with lifespan and severe diseases, yet the genetic
determinants of telomere length remain incompletely defined. Here we performed genome …

Mitochondrial disease presenting in childhood is characterized by clinical, biochemical and
genetic complexity. Some children are affected by canonical syndromes, but the majority …

Mitochondrial disorders comprise a molecular and clinically diverse group of diseases that
are associated with mitochondrial dysfunction leading to multi-organ disease. With recent …

Isolated populations have been valuable for the discovery of rare monogenic diseases and
their causative genetic variants. Finnish disease heritage (FDH) is an example of a group of …

Mitochondrial diseases are extremely heterogeneous genetic conditions characterized by
faulty oxidative phosphorylation (OXPHOS). OXPHOS deficiency can be the result of …

Primary mitochondrial diseases (PMD) refer to a group of severe, often inherited genetic
conditions due to mutations in the mitochondrial genome or in the nuclear genes encoding …

Mitochondrial diseases are a group of common inherited diseases causing disruption of
oxidative phosphorylation. Some patients with mitochondrial disease have endocrine …

Importance Infants with hypotonia can present with a variety of potentially severe clinical
signs and symptoms and often require invasive testing and multiple procedures. The wide …