Deletions in mitochondrial DNA (mtDNA) are associated with diverse human pathologies
including cancer, aging and mitochondrial disorders. Large-scale deletions span kilobases …

Mitochondria were first postulated to contribute to aging more than 40 years ago. During the
following decades, multiple lines of evidence in model organisms and humans showed that …

Common genetic variants of mitochondrial DNA (mtDNA) increase the risk of developing
several of the major health issues facing the western world, including neurodegenerative …

Mitochondria are double‐membrane‐bound organelles that are present in all nucleated
eukaryotic cells and are responsible for the production of cellular energy in the form of ATP …

Objective The prevalence of mitochondrial disease has proven difficult to establish,
predominantly as a result of clinical and genetic heterogeneity. The phenotypic spectrum of …

Enormous strides have recently been made in our understanding of the biology and
pathobiology of mitochondria. Many diseases have been identified as caused by …

The human mitochondrial genome is extremely small compared with the nuclear genome,
and mitochondrial genetics presents unique clinical and experimental challenges. Despite …

For more than 45 years, Muscle Biopsy: A Practical Approach has offered, comprehensive,
clinically-focused coverage of the acquisition, interpretation, and assessment of muscle …

Mitochondria are organelles with vital functions in almost all eukaryotic cells. Often
described as the cellular 'powerhouses' due to their essential role in aerobic oxidative …

Defects of mitochondrial metabolism cause a wide range of human diseases that include
examples from all medical subspecialties. This review updates the topic of mitochondrial …