Genes, Children and Pediatricians

Authors

  • Margarida Paiva Coelho Reference center for Inherited Metabolic Disorders, Centro Materno-Infantil do Norte, Centro Hospitalar Universitário do Porto
  • Ana Rita Soares Centro de Genética Médica, Centro Hospitalar Universitário do Porto
  • Catarina Magalhães Department of Neuropediatrics, Centro Hospitalar Alto Ave
  • Ana Teresa Vide Department of Imaging, Centro Hospitalar Alto Ave
  • Esmeralda Martins Reference center for Inherited Metabolic Disorders, Centro Materno-Infantil do Norte, Centro Hospitalar Universitário do Porto

DOI:

https://doi.org/10.25753/BirthGrowthMJ.v29.i2.17550

Keywords:

brainstem dysfunction, Leigh syndrome, m.8993T>G, mitochondrial disorder, mtDNA

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References

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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Published

2020-06-26

How to Cite

1.
Paiva Coelho M, Soares AR, Magalhães C, Vide AT, Martins E. Genes, Children and Pediatricians. BGMJ [Internet]. 2020 Jun. 26 [cited 2025 Dec. 10];29(2):131-3. Available from: https://revistas.rcaap.pt/bgmj/article/view/17550

Issue

Vol. 29 No. 2 (2020)

Section

Genes, Children and Pediatricians

License

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