Muraresku CC, McCormick EM, Falk MJ. Mitochondrial disease: advances in clinical diagnosis, management, therapeutic development, and preventative strategies. Curr Genet Med Rep. 2018;6:62–72.

Article  PubMed  PubMed Central  Google Scholar 

Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, et al. Patient care standards for primary mitochondrial disease: a consensus statement from the mitochondrial medicine society. Genet Med. 2017;19:10.

Article  PubMed Central  Google Scholar 

Saraste M. Oxidative phosphorylation at the fin de siècle. Science. 1999;283:1488–93.

Article  PubMed  CAS  Google Scholar 

Schapira AHV. Mitochondrial diseases. Lancet. 2012;379:1825–34.

Article  PubMed  CAS  Google Scholar 

Videla LA, Marimán A, Ramos B, José Silva M, del Campo A. Standpoints in mitochondrial dysfunction: underlying mechanisms in search of therapeutic strategies. Mitochondrion. 2022;63:9–22.

Article  PubMed  CAS  Google Scholar 

Koopman WJH, Willems PHGM, Smeitink JAM. Monogenic mitochondrial disorders. N Engl J Med. 2012;366:1132–41.

Article  PubMed  CAS  Google Scholar 

Wallace DC, Chalkia D. Mitochondrial DNA genetics and the heteroplasmy conundrum in evolution and disease. Cold Spring Harbor Persp Biol. 2013;5(11):a021220.

Article  Google Scholar 

Mukherjee S, Ghosh A. Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases. Mitochondrion. 2020;53:1–20.

Article  PubMed  CAS  Google Scholar 

Goldstein A, Rahman S. Seeking impact: Global perspectives on outcome measure selection for translational and clinical research for primary mitochondrial disorders. J Inherit Metab Dis. 2021;44:343–57.

Article  PubMed  CAS  Google Scholar 

Keshavan N, Rahman S. Natural history of mitochondrial disorders: a systematic review. Essays Biochem. 2018;62:423–42.

Article  PubMed  Google Scholar 

Bernier FP, Boneh A, Dennett X, Chow CW, Cleary MA, Thorburn DR. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology. 2002;59(9):1406–11.

Article  PubMed  CAS  Google Scholar 

Morava E, van den Heuvel LP, Hol F, De Vries MC, Hogeveen M, Rodenburg RJ, Smeitink JA. Mitochondrial disease criteria: diagnostic applications in children. Neurology. 2006;67(10):1823–6.

Article  PubMed  CAS  Google Scholar 

Parikh S, Karaa A, Goldstein A, Bertini ES, Chinnery PF, Christodoulou J, et al. Diagnosis of possible’ mitochondrial disease: An existential crisis. J Med Genet. 2019;56:123–30.

Article  PubMed  CAS  Google Scholar 

Emmanuele V, Ganesh J, Vladutiu G, Haas R, Kerr D, Saneto RP, et al. Time to harmonize mitochondrial syndrome nomenclature and classification: a consensus from the North American mitochondrial disease consortium (NAMDC). Mol Genet Metab. 2022;136:125–31.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Schon KR, Ratnaike T, van den Ameele J, Horvath R, Chinnery PF. Mitochondrial diseases: a diagnostic revolution. Trends Genet. 2020;36:702–17.

Article  PubMed  CAS  Google Scholar 

Yamamoto K, Sakaue S, Matsuda K, Murakami Y, Kamatani Y, Ozono K, Momozawa Y, Okada Y. Genetic and phenotypic landscape of the mitochondrial genome in the Japanese population. Commun Biol. 2020;3(1):104.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Wong LJC. Next generation molecular diagnosis of mitochondrial disorders. Mitochondrion. 2013;13:379–87.

Article  PubMed  CAS  Google Scholar 

Disha B, Mathew RP, Dalal AB, Mahato AK, Satyamoorthy K, Singh KK, et al. Mitochondria in biology and medicine–2023. Mitochondrion. 2024;76:101853.

Article  PubMed  CAS  Google Scholar 

Chen R, Aldred MA, Xu W, Zein J, Bazeley P, Comhair SAA, et al. Comparison of whole genome sequencing and targeted sequencing for mitochondrial DNA. Mitochondrion. 2021;58:303–10.

Article  PubMed  PubMed Central  CAS  Google Scholar 

Tranah GJ, Katzman SM, Lauterjung K, Yaffe K, Manini TM, Kritchevsky S, et al. Mitochondrial DNA m.3243A>G heteroplasmy affects multiple aging phenotypes and risk of mortality. Sci Rep. 2018;8:11887.

Article  PubMed  PubMed Central  Google Scholar 

Bourgeois JM, Tarnopolsky MA. Pathology of skeletal muscle in mitochondrial disorders. Mitochondrion. 2004;4:441–52.

Article  PubMed  CAS  Google Scholar 

Gayathri N, Deepha S, Sharma S. Diagnosis of primary mitochondrial disorders-Emphasis on myopathological aspects. Mitochondrion. 2021;61:69–84.

Article  PubMed  CAS  Google Scholar 

Wong LJC. Diagnostic challenges of mitochondrial DNA disorders. Mitochondrion. 2007;7:45–52.

Article  PubMed  CAS  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med. 2015;17:405–24.

Article  PubMed  PubMed Central  Google Scholar 

McCormick EM, Lott MT, Dulik MC, Shen L, Attimonelli M, Vitale O, et al. Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. Hum Mutat. 2020;41:2028–57.

Article  PubMed  PubMed Central  Google Scholar 

Chen S, Francioli LC, Goodrich JK, Collins RL, Kanai M, Wang Q, et al. A genomic mutational constraint map using variation in 76,156 human genomes. Nature. 2024;625:92–100.

Article  PubMed  CAS  Google Scholar 

Koenig MK. Presentation and diagnosis of mitochondrial disorders in children. Pediatr Neurol. 2008;38:305–13.

Article  PubMed  PubMed Central  Google Scholar 

Lamont PJ, Surtees R, Woodward CE, Leonard JV, Wood NW, Harding AE. Clinical and laboratory findings in referrals for mitochondrial DNA analysis. Arch Dis Childhood. 1998;79:22–7.

Article  CAS  Google Scholar 

Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, et al. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. JAMA. 2014;312:68–77.

Article  PubMed  PubMed Central  Google Scholar 

Thorburn DR. Mitochondrial disorders: prevalence, myths and advances. J Inherit Metab Dis. 2004;27:349–62.

Article  PubMed  CAS  Google Scholar 

DiMauro S, Hirano M. Mitochondrial encephalomyopathies: an update. Neuromuscul Disord. 2005;15:276–86.

Article  PubMed  Google Scholar 

Rahman S. Mitochondrial disease in children. J Intern Med. 2020;287:609–33.

Article  PubMed  CAS