Genes, Children and Pediatricians

  • 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
  • Esmeralda Martins Reference center for Inherited Metabolic Disorders, Centro Materno-Infantil do Norte, Centro Hospitalar Universitário do Porto
Keywords: brainstem dysfunction, Leigh syndrome, m.8993T>G, mitochondrial disorder, mtDNA

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/.

Published
2020-06-26
How to Cite
Paiva Coelho, M., Soares, A. R., Magalhães, C., & Martins, E. (2020). Genes, Children and Pediatricians. NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL, 29(2), 131-133. https://doi.org/10.25753/BirthGrowthMJ.v29.i2.17550
Section
Genes, Children and Pediatricians