Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy

IMPORTANCE: YARS2 mutations have been associated with a clinical triad of myopathy, lactic acidosis, and sideroblastic anemia in predominantly Middle Eastern populations. However, the identification of new patients expands the clinical and molecular spectrum of mitochondrial disorders. OBJECTIVES: T...

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Bibliografische gegevens
Gepubliceerd in:JAMA Neurol
Hoofdauteurs: Sommerville, Ewen W., Ng, Yi Shiau, Alston, Charlotte L., Dallabona, Cristina, Gilberti, Micol, He, Langping, Knowles, Charlotte, Chin, Sophie L., Schaefer, Andrew M., Falkous, Gavin, Murdoch, David, Longman, Cheryl, de Visser, Marianne, Bindoff, Laurence A., Rawles, John M., Dean, John C. S., Petty, Richard K., Farrugia, Maria E., Haack, Tobias B., Prokisch, Holger, McFarland, Robert, Turnbull, Douglass M., Donnini, Claudia, Taylor, Robert W., Gorman, Gráinne S.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: American Medical Association 2017
Onderwerpen:
Original Investigation
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5822212/
https://ncbi.nlm.nih.gov/pubmed/28395030
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaneurol.2016.4357
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