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2.1
Mitochondrial Complex 5 Deficiency Mitochondrial Type 1

Presentation

Mitochondrial diabetes: molecular mechanisms and clinical presentation. Diabetes. 2004;53 Suppl 1:S103-109. [ Links ] 30. Anglin RE, Garside SL, Tarnopolsky MA, Mazurek MF, Rosebush PI. [scielo.org.pe]

Treatment

Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS. Biochim Biophys Acta. 2012;1822(6):1019-29. [ Links ] 19. Sproule DM, Kaufmann P. [scielo.org.pe]

Epidemiology

Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. Am J Hum Genet. 1998;63(2):447-54. [ Links ] 8. [scielo.org.pe]

Prevention

Taurine supplementation for prevention of stroke-like episodes in MELAS: a multicentre, open-label, 52-week phase III trial. J Neurol Neurosurg Psychiatry. 2019;90(5):529-36. [ Links ] 41. Lin C-M, Thajeb P. [scielo.org.pe]

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