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Mitochondrial Disorders

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ClinGen Resource

This video provides an overview of mitochondrial disorders. Each of our cells contains structures called mitochondria that transform oxygen and food into energy for our cells and bodies to function. When mitochondria do not make enough energy for our cells, it may impact one or several organs. We call this a mitochondrial disorder. There are two main ways that genetic variants can affect how our mitochondria work: variants in our mitochondrial DNA or variants in our nuclear DNA. Some common symptoms of mitochondrial disorders include seizures and strokes, developmental delays, and visual or hearing problems.

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