LEIGH SYNDROME: A CASE REPORT WITH A MITOCHONDRIAL DNA MUTATION

OBJECTIVE: Leigh syndrome is a neurodegenerative disorder with an incidence of 1:40,000 live births. It presents wide clinical, biochemical, and genetic heterogeneity, but with homogenous neuropatoradiological alterations. There is no specific treatment, and the prognosis is reserved. This case repo...

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Опубликовано в: :Rev Paul Pediatr
Главные авторы: Lopes, Tânia, Coelho, Margarida, Bordalo, Diana, Bandeira, António, Bandeira, Anabela, Vilarinho, Laura, Fonseca, Paula, Carvalho, Sónia, Martins, Cecília, Oliveira, José Gonçalves
Формат: Artigo
Язык:Inglês
Опубликовано: Sociedade de Pediatria de São Paulo 2018
Предметы:
Case Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6322804/
https://ncbi.nlm.nih.gov/pubmed/30379275
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1984-0462/;2018;36;4;00003
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