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Taylor, R.W., Pyle, A., Griffin, H., et al. (2014) Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies. JAMA, 312, 68-77.
https://doi.org/10.1001/jama.2014.7184

has been cited by the following article:

• TITLE: Combined Oxidative Phosphorylation Deficiency-20-Exome as a Diagnostic Implement

  AUTHORS: Paulo Roberto Matos-Neto, Lucas Antonissen Lima Verde, Airton Ferreira da Ponte-Filho, Luís Eduardo Oliveira Matos, Amandha Espavier Trés, Paulo Roberto Lacerda Leal, Gerardo Cristino-Filho, Regina Coeli de Carvalho Porto Carneiro

  KEYWORDS: Oxidative Phosphorylation, Epilepsy, Exome, Mitochondrial Defect, VARS2

  JOURNAL NAME: Journal of Biosciences and Medicines, Vol.12 No.6, June 5, 2024

  ABSTRACT: 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.