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Pediatr Clin North Am. 2017 Feb;64(1):161-171. doi: 10.1016/j.pcl.2016.08.011.

Presentation and Diagnostic Evaluation of Mitochondrial Disease.

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Rady Children's Institute for Genomic Medicine, 3020 Children's Way MC 5129, San Diego, CA 92123, USA; Division of Genetics, Department of Pediatrics, Human Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
Division of Pediatric Pathology, Department of Pathology and Laboratory Medicine, Neuroscience Research Center, Medical College of Wisconsin, 8701 Watertown Plank Road, TBRC Building, Room C4490, Milwaukee, WI 53226, USA. Electronic address:


Mitochondrial disease (MD) occurs when alteration of mitochondrial respiratory chain complex function caused by genetic mutation produces a detectable disease state. These mutations may be found in either the nuclear or mitochondrial genomes, and may only be present in a subset of cells or body tissues. Thus, the phenotype of MD is extremely variable and the definitive diagnosis of MD is complex. This article provides a brief description of a strategy used in the diagnosis of MD, by integrating data from clinical, imaging, pathologic, molecular, and enzymatic assessments. Additional information on characteristic findings seen in classic MD syndromes is also provided.


Diagnosis; Electron transport chain; Metabolic; Mitochondrial; Myopathy; mtDNA

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