References
- Sengers RC, Stadhouders AM, Trijbels JM. Mitochondrial myopathies. Clinical, morphological and biochemical aspects. Eur J Pediatr. 1984;141(4):192–207. doi: 10.1007/BF00572761.
- DiMauro S, Bonilla E, Zeviani M, Nakagawa M, DeVivo DC. Mitochondrial myopathies. Ann Neurol. 1985;17(6):521–38. doi: 10.1002/ana.410170602.
- Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, et al. Sequence and organization of the human mitochondrial genome. Nature. 1981;290(5806):457–65. doi: 10.1038/290457a0.
- Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature. 1988;331(6158):717–9. doi: 10.1038/331717a0.
- Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, et al. Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy. Science. 1988;242(4884):1427–30. doi: 10.1126/science.3201231.
- Mayr JA, Freisinger P, Schlachter K, Rolinski B, Zimmermann FA, Scheffner T, et al. Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway. Am J Hum Genet. 2011;89(6):806–12. doi: 10.1016/j.ajhg.2011.11.007.
- Mayr JA, Zimmermann FA, Fauth C, Bergheim C, Meierhofer D, Radmayr D, et al. Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation. Am J Hum Genet. 2011;89(6):792–7. doi: 10.1016/j.ajhg.2011.11.011.
- Cízková A, Stránecký V, Mayr JA, Tesarová M, Havlícková V, Paul J, et al. TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. Nat Genet. 2008;40(11):1288–90. doi: 10.1038/ng.246.
- Jordens EZ, Palmieri L, Huizing M, van den Heuvel LP, Sengers RC, Dörner A, et al. Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome. Ann Neurol. 2002;52(1):95–9. doi: 10.1002/ana.10214.
- Mayr JA, Haack TB, Graf E, Zimmermann FA, Wieland T, Haberberger B, et al. Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am J Hum Genet. 2012;90(2):314–20. doi: 10.1016/j.ajhg.2011.12.005.
- Wortmann SB, Mayr JA, Nuoffer JM, Prokisch H, Sperl W. A guideline for the diagnosis of pediatric mitochondrial disease: the value of muscle and skin biopsies in the genetics era. Neuropediatrics. 2017;48(4):309–14. doi: 10.1055/s-0037-1603776.
- Thompson K, Collier JJ, Glasgow RIC, Robertson FM, Pyle A, Blakely EL, et al. Recent advances in understanding the molecular genetic basis of mitochondrial disease. J Inherit Metab Dis. 2020;43(1):36–50. doi: 10.1002/jimd.12104.
- Haack TB, Danhauser K, Haberberger B, Hoser J, Strecker V, Boehm D, et al. Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat Genet. 2010;42(12):1131–4. doi: 10.1038/ng.706.
- Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, et al. Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet. 2013;93(3):482–95. doi: 10.1016/j.ajhg.2013.07.016.
- Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, et al. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? Orphanet J Rare Dis. 2018;13(1):120. doi: 10.1186/s13023-018-0784-8.