Page 47 - Read Online
P. 47
Page 46 Bennett. J Transl Genet Genom 2020;4:36-49 I https://doi.org/10.20517/jtgg.2020.17
Consent for publication
Not applicable.
Copyright
© The Author(s) 2020.
REFERENCES
1. Buchaklian AH, Helbling D, Ware SM, Dimmock DP. Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial
myopathy. Mol Genet Metab 2012;107:92-4.
2. Dimmock DP, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, et al. Clinical and molecular features of mitochondrial DNA depletion due to
mutations in deoxyguanosine kinase. Hum Mutat 2008;29:330-1.
3. Scharfe C, Lu HH, Neuenburg JK, Allen EA, Li GC, et al. Mapping gene associations in human mitochondria using clinical disease
phenotypes. PLoS Comput Biol 2009;5:e1000374.
4. Dimauro S, Davidzon G. Mitochondrial DNA and disease. Ann Med 2005;37:222-32.
5. Ricci E, Moraes CT, Servidei S, Tonali P, Bonilla E, et al. Disorders associated with depletion of mitochondrial DNA. Brain Pathol
1992;2:141-7.
6. Vu TH, Hirano M, Dimauro S. Mitochondrial diseases. Neurol Clin 2002;20:809-39.
7. Gropman AL. Diagnosis and treatment of childhood mitochondrial diseases. Curr Neurol Neurosci Rep 2001;1:185-94.
8. Craig AK, de Menezes MS, Saneto RP. Dravet syndrome: patients with co-morbid SCN1A gene mutations and mitochondrial electron
transport chain defects. Seizure 2012;21:17-20.
9. DiMauro S, Lombes A, Nakase H, Mita S, Fabrizi GM, et al. Cytochrome c oxidase deficiency. Pediatr Res 1990;28:536-41.
10. Figarella-Branger D, Pellissier JF, Scheiner C, Wernert F, Desnuelle C. Defects of the mitochondrial respiratory chain complexes in three
pediatric cases with hypotonia and cardiac involvement. J Neurol Sci 1992;108:105-13.
11. Hadzsiev K, Maasz A, Kisfali P, Kalman E, Gomori E, et al. Mitochondrial DNA 11777C>A mutation associated Leigh syndrome: case
report with a review of the previously described pedigrees. Neuromolecular Med 2010;12:277-84.
12. Khurana DS, Salganicoff L, Melvin JJ, Hobdell EF, Valencia I, et al. Epilepsy and respiratory chain defects in children with mitochondrial
encephalopathies. Neuropediatrics 2008;39:8-13.
13. Kirby DM, Crawford M, Cleary MA, Dahl HH, Dennett X, et al. Respiratory chain complex I deficiency: an underdiagnosed energy
generation disorder. Neurology 1999;52:1255-64.
14. Procaccio V, Wallace DC. Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations. Neurology
2004;62:1899-901.
15. Wojtovich AP, Smith CO, Haynes CM, Nehrke KW, Brookes PS. Physiological consequences of complex II inhibition for aging, disease,
and the mKATP channel. Biochim Biophys Acta 2013;1827:598-611.
16. Bleier L, Drose S. Superoxide generation by complex III: From mechanistic rationales to functional consequences. Biochim Biophys Acta
2013;1827:1320-31.
17. Marí M, Morales A, Colell A, García-Ruiz C, Kaplowitz N, et al. Mitochondrial glutathione: features, regulation and role in disease.
Biochim Biophys Acta 2013;1830:3317-28.
18. Carelli V, La Morgia C, Sadun AA. Mitochondrial dysfunction in optic neuropathies: animal models and therapeutic options. Curr Opin
Neurol 2013;26:52-8.
19. Bindoff LA, Desnuelle C, Birch-Machin MA, Pellissier JF, Serratrice G, et al. Multiple defects of the mitochondrial respiratory chain in a
mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study. J Neurol Sci 1991;102:17-24.
20. Borchert A, Wolf NI, Wilichowski E. Current concepts of mitochondrial disorders in childhood. Semin Pediatr Neurol 2002;9:151-9.
21. Chitkara DK, Nurko S, Shoffner JM, Buie T, Flores A. Abnormalities in gastrointestinal motility are associated with diseases of oxidative
phosphorylation in children. Am J Gastroenterol 2003;98:871-7.
22. Goodfellow JA, Dani K, Stewart W, Santosh C, McLean J, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like
episodes: an important cause of stroke in young people. Postgrad Med J 2012;88:326-34.
23. Gordon N. Alpers syndrome: progressive neuronal degeneration of children with liver disease. Dev Med Child Neurol 2006;48:1001-3.
24. Harding AE, Holt IJ. Mitochondrial Myopathies. Br Med Bull 1989;45:760-71.
25. Katzberg H, Karamchandani J, So YT, Vogel H, Wang CH. End-stage cardiac disease as an initial presentation of systemic myopathies: case
series and literature review. J Child Neurol 2010;25:1382-8.
26. Longo N. Mitochondrial encephalopathy. Neurol Clin 2003;21:817-31.
27. McDonald DG, McMenamin JB, Farrell MA, Droogan O, Green AJ. Familial childhood onset neuropathy and cirrhosis with the 4977bp
mitochondrial DNA deletion. Am J Med Genet 2002;111:191-4.
28. Menezes MP, Ouvrier RA. Peripheral neuropathy associated with mitochondrial disease in children. Dev Med Child Neurol 2012;54:407-14.
29. Morris AA. Mitochondrial respiratory chain disorders and the liver. Liver 1999;19:357-68.
30. Oldfors A, Tulinius M. Mitochondrial encephalomyopathies. Handb Clin Neurol 2007;86:125-65.
31. Sakushima K, Tsuji-Akimoto S, Niino M, Saitoh S, Yabe I, et al. Adult Leigh disease without failure to thrive. Neurologist 2011;17:222-7.
32. Scaglia F. The role of mitochondrial dysfunction in psychiatric disease. Dev Disabil Res Rev 2010;16:136-43.