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 …

Intellectual disability (ID) disorders are genetically and phenotypically extremely
heterogeneous. Can this complexity be depicted in a comprehensive way as a means of …

Autism spectrum disorder (ASD) affects~ 2% of children in the United States. The etiology of
ASD likely involves environmental factors triggering physiological abnormalities in …

Monogenic Mitochondrial Disorders | New England Journal of Medicine Skip to main content The
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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 …

Background Whole-exome sequencing (WES) has led to an exponential increase in
identification of causative variants in mitochondrial disorders (MD). Methods We performed …

Several lines of evidence implicate mitochondria in the pathophysiology of autism spectrum
disorder (ASD). In this review, we outline some of the evidence supporting this notion, as …