Two Novel Variants in <i>YARS2</i> Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic Insufficiency

Two Novel Variants in <i>YARS2</i> Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic Insufficiency

Pathogenic variants in the mitochondrial tyrosyl-tRNA synthetase gene (<i>YARS2</i>) were associated with myopathy, lactic acidosis, and sideroblastic anemia (MLASA). However, patients can present mitochondrial myopathy, with exercise intolerance and muscle weakness, leading from mild to...

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Bibliographic Details
Main Authors: Lidia Carreño-Gago, Diana Luz Juárez-Flores, Josep Maria Grau, Javier Ramón, Ester Lozano, Ferran Vila-Julià, Ramon Martí, Glòria Garrabou, Elena Garcia-Arumí
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:Journal of Clinical Medicine
Subjects:
mitochondrial aminocyl-tRNA synthetase
novel pathogenic variant
Pearson’s syndrome
Online Access:https://www.mdpi.com/2077-0383/10/16/3471

Internet

https://www.mdpi.com/2077-0383/10/16/3471

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