Referencias

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2. J. Finsterer, "Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation"

3. A novel tRNAVal mitochondrial DNA mutation causing MELAS. Tanji, Kurenai et al. Journal of the Neurological Sciences , Volume 270 , Issue 1 , 23 - 27 

4. MELAS phenotype associated with m.3302A>G mutation in mitochondrial tRNALeu(UUR) gene. Goto, Masahide et al. Brain and Development , Volume 36 , Issue 2 , 180 - 182

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6. Hoptasz M, Szczucinski A, Losy J. Heterogeneous phenotypic manifestations of maternally inherited deafness associated with the mitochondrial A3243G mutation. Case report. Neurol Neurochir Pol. 2014. 48(2):150-3. [Medline].

7. Tzen CY, Thajeb P, Wu TY, et al. Melas with point mutations involving tRNALeu (A3243G) and tRNAGlu(A14693g). Muscle Nerve. 2003 Nov. 28(5):575-81. [Medline].

8. MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options. El-Hattab, Ayman W. et al. Molecular Genetics and Metabolism , Volume 116 , Issue 1 , 4 - 12

9. DiMauro S, Hirano M. MELAS. 2001 Feb 27 [Updated 2013 Nov 21]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.

10. Pfeffer G, Chinnery PF. Diagnosis and treatment of mitochondrial myopathies. Ann Med. 2013 Feb;45(1):4-16.

11. Salvatore DiMauro and Michio Hirano. MELAS. GeneReviews. November 21, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1233/. Accessed 12/4/2013.

12. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. Genetics Home Reference. November 2006; http://ghr.nlm.nih.gov/condition/mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes. Accessed 12/4/2013.

13. Salvador Meseguer, Ana Martínez-Zamora, Elena García-Arumí, Antonio L. Andreu, M.-Eugenia Armengod; The ROS-sensitive microRNA-9/9* controls the expression of mitochondrial tRNA-modifying enzymes and is involved in the molecular mechanism of MELAS syndrome, Human Molecular Genetics, Volume 24, Issue 1, 1 January 2015, Pages 167–184, https://doi.org/10.1093/hmg/ddu427

14. Sproule DM, Kaufmann P. Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome.

15. JORDE, LYNN B., CAREY J.C., BAMSHAD M.J. (2011) Genética médica. Ed. Elsevier.