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

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

Abstract 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) sy...

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Bibliographic Details
Main Authors: Chiara Begliuomini, Giorgio Magli, Maja Di Rocco, Filippo M. Santorelli, Denise Cassandrini, Claudia Nesti, Federica Deodato, Daria Diodato, Susanna Casellato, Delia M. Simula, Veronica Dessì, Anna Eusebi, Alessandra Carta, Stefano Sotgiu
Format: Article
Language:English
Published: BMC 2019-05-01
Series:BMC Medical Genetics
Subjects:
Mitochondrial disorder
Epileptic encephalopathy
Developmental delay
VARS2
Online Access:http://link.springer.com/article/10.1186/s12881-019-0798-7

Internet

http://link.springer.com/article/10.1186/s12881-019-0798-7

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