%0 Journal Article
%T Combined Oxidative Phosphorylation Deficiency-20-Exome as a Diagnostic Implement
%A Paulo Roberto Matos-Neto
%A Lucas Antonissen Lima Verde
%A Airton Ferreira da Ponte-Filho
%A Lu&#237
%A s Eduardo Oliveira Matos
%A Amandha Espavier Tr&#233
%A s
%A Paulo Roberto Lacerda Leal
%A Gerardo Cristino-Filho
%A Regina Coeli de Carvalho Porto Carneiro
%J Journal of Biosciences and Medicines
%P 7-12
%@ 2327-509X
%D 2024
%I Scientific Research Publishing
%R 10.4236/jbm.2024.126002
%X Mitochondrial disorders are phenotypically varied, with serious clinical repercussions. Among them, there is the deficiency of combined oxidative phosphorylation of type 20, which occurs due to a defect in the VARS2 gene. This article presents a case of a 2-year-old female with progressive myoclonic epilepsy and psychomotor regression, with refractoriness to multiple anticonvulsants. The diagnosis was only made after the examination was carried out. Therefore, this article highlights the aspects of this rare disease and the importance of the exome for the diagnosis of rare conditions.
%K Oxidative Phosphorylation
%K Epilepsy
%K Exome
%K Mitochondrial Defect
%K VARS2
%U http://www.scirp.org/journal/PaperInformation.aspx?PaperID=133689