Abstract

Mitochondrial disease is a group of rare diseases with highly variable clinical presentation. Diagnosis mainly focuses on identifying one pathogenic variant in either the nuclear or mitochondrial DNA (mtDNA) as the primary cause of mitochondrial disease. However, this strategy does not explain why many individuals carrying the same variant present subtly or vastly different clinical phenotypes.

Full Text
Paper version not known

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call

Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.