Genes, Children and Pediatricians
Keywords:brainstem dysfunction, Leigh syndrome, m.8993T>G, mitochondrial disorder, mtDNA
Ganetzky RD, Stendel C, McCormick EM, Zolkipli‐Cunningham Z, Goldstein AC, Klopstock T, et al. Pathogenic variants in MT‐ATP6: A United Kingdom–based mitochondrial disease cohort study. Annals of Neurology. 2019; 86:310-5.
Lake NJ, Compton AG, Rahman S, Thorburn DR. Leigh syndrome: One disorder, more than 75 monogenic causes. Annals of Neurology. 2016; 79:190-203.
Gropman A, Chiaramello A. Phenotypic spectrum of maternally inherited Leigh Syndrome associated with the m.8993T>G variant, Molecular Genetics and Metabolism Reports. 2018; 15:134.
Sofou K, de Coo IFM, Ostergaard E, Isohanni P, Naess K, De Meirleir L, et al. Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients Journal of Medical Genetics. 2018; 55:21-7.
Thorburn DR, Rahman J, Rahman S. Mitochondrial DNA-Associated Leigh Syndrome and NARP. (Assessed September 15, 2019). Available at: https://www.ncbi.nlm.nih.gov/books/NBK1173/.
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