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

• Ngā kaituhi matua: Chiara Begliuomini (Author), Giorgio Magli (Author), Maja Di Rocco (Author), Filippo M. Santorelli (Author), Denise Cassandrini (Author), Claudia Nesti (Author), Federica Deodato (Author), Daria Diodato (Author), Susanna Casellato (Author), Delia M. Simula (Author), Veronica Dessì (Author), Anna Eusebi (Author), Alessandra Carta (Author), Stefano Sotgiu (Author)
• Hōputu: Pukapuka
• I whakaputaina: BMC, 2019-05-01T00:00:00Z.
• Ngā marau: article
• Urunga tuihono: Connect to this object online.

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...