VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype
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
Journal
Volume
20
Issue
1
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