Purpose: The purpose of this statement is to review the literature regarding mitochondrial
disease and to provide recommendations for optimal diagnosis and treatment. This …

A comprehensive literature search was performed to collate evidence of mitochondrial
dysfunction in autism spectrum disorders (ASDs) with two primary objectives. First, features …

Mitochondrial disorders represent a large collection of rare syndromes that are difficult to
manage both because we do not fully understand biochemical pathogenesis and because …

Mitochondrial disorders have the highest incidence among congenital metabolic disorders
characterized by biochemical respiratory chain complex deficiencies. It occurs at a rate of 1 …

Mitochondrial disease refers to a heterogeneous group of disorders resulting in defective
cellular energy production due to abnormal oxidative phosphorylation (oxphos). Primary …

For nearly three decades, the sequence of the human mitochondrial genome (mtDNA) has
provided a molecular framework for understanding maternally inherited diseases. However …

Advances in next-generation sequencing (NGS) promise to facilitate diagnosis of inherited
disorders. Although in research settings NGS has pinpointed causal alleles using …

Context Impaired mitochondrial function may influence processes highly dependent on
energy, such as neurodevelopment, and contribute to autism. No studies have evaluated …

Rhabdomyolysis is characterized by severe acute muscle injury resulting in muscle pain,
weakness, and/or swelling with release of myofiber contents into the bloodstream …

Mitochondrial respiratory chain disorders comprise a group of perhaps several hundred
different genetic diseases. Each individual disorder is rare, but collectively they account for …