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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Detalhes bibliográficos
Publicado no:JAMA Neurol
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: American Medical Association 2017
Assuntos:
Original Investigation
Acesso em linha: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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