Try out PMC Labs and tell us what you think. Learn More. Mitochondria are dynamic organelles ubiquitously present in nucleated eukaryotic cells, subserving multiple metabolic functions, including cellular ATP generation by oxidative phosphorylation OXPHOS. Despite the increasing use of next-generation-sequencing NGS and various omics platforms in unravelling novel mtD genes and pathomechanisms, current clinical practice for investigating mtD essentially involves a multipronged approach including clinical assessment, metabolic screening, imaging, pathological, biochemical and functional testing to guide molecular genetic analysis. This review addresses the broad muscle pathology landscape including genotype—phenotype correlations in adult and paediatric mtD, the role of immunodiagnostics in understanding some of the pathomechanisms underpinning the canonical features of mtD, and recent diagnostic advances in the field. The diagnosis of mtD is challenging due to the incredible phenotypic and genetic diversity associated with these diseases.
Myopathology of Adult and Paediatric Mitochondrial Diseases
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