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

BACKGROUND: 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...

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Bibliographic Details
Published in:BMC Med Genet
Main Authors: Begliuomini, Chiara, Magli, Giorgio, Di Rocco, Maja, Santorelli, Filippo M., Cassandrini, Denise, Nesti, Claudia, Deodato, Federica, Diodato, Daria, Casellato, Susanna, Simula, Delia M., Dessì, Veronica, Eusebi, Anna, Carta, Alessandra, Sotgiu, Stefano
Format: Artigo
Language:Inglês
Published: BioMed Central 2019
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6505124/
https://ncbi.nlm.nih.gov/pubmed/31064326
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0798-7
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