A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations

Nuclear-encoded disorders of mitochondrial translation are clinically and genetically heterogeneous. Genetic causes include defects of mitochondrial aminoacyl-tRNA synthetases, and factors required for initiation, elongation and termination of protein synthesis as well as ribosome recycling. We repo...

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Detalles Bibliográficos
Autores principales: Shahni, Rojeen, Wedatilake, Yehani, Cleary, Maureen A, Lindley, Keith J, Sibson, Keith R, Rahman, Shamima
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Periodicals, Inc 2013
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3884767/
https://www.ncbi.nlm.nih.gov/pubmed/23918765
http://dx.doi.org/10.1002/ajmg.a.36065

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3884767/
https://www.ncbi.nlm.nih.gov/pubmed/23918765
http://dx.doi.org/10.1002/ajmg.a.36065

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