VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype

Volume: 20, Issue: 1
Published: May 7, 2019
Abstract
Mitochondrial respiratory chain consists of five complexes encoded by nuclear and mitochondrial genomes. Mitochondrial aminoacyl-tRNA synthetases are key enzymes in the synthesis of such complexes. Bi-allelic variants of VARS2, a nuclear gene encoding for valyl-tRNA (Val-tRNA) synthetase, are associated to several forms of mitochondrial encephalopathies or cardiomyoencephalopathies. Among these, the rare homozygous c.1100C > T (p.Thr367Ile)...
Paper Details
Title
VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype
Published Date
May 7, 2019
Volume
20
Issue
1
Citation AnalysisPro
  • Scinapse’s Top 10 Citation Journals & Affiliations graph reveals the quality and authenticity of citations received by a paper.
  • Discover whether citations have been inflated due to self-citations, or if citations include institutional bias.