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

Pathogenic variants in the mitochondrial tyrosyl-tRNA synthetase gene (YARS2) 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 lethal phenotypes....

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Detalles Bibliográficos
Autores principales: Carreño-Gago, Lidia, Juárez-Flores, Diana Luz, Grau, Josep Maria, Ramón, Javier, Lozano, Ester, Vila-Julià, Ferran, Martí, Ramon, Garrabou, Glòria, Garcia-Arumí, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8397107/
https://www.ncbi.nlm.nih.gov/pubmed/34441767
http://dx.doi.org/10.3390/jcm10163471

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8397107/
https://www.ncbi.nlm.nih.gov/pubmed/34441767
http://dx.doi.org/10.3390/jcm10163471

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