Genes, Children and Pediatricians
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/.
Copyright (c) 2020 NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Copyright and access
This journal offers immediate free access to its content, following the principle that providing free scientific knowledge to the public provides greater global democratization of knowledge.
The works are licensed under a Creative Commons Attribution Non-commercial 4.0 International license.
Nascer e Crescer – Birth and Growth Medical Journal do not charge any submission or processing fee to the articles submitted.