Article
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
JAMA neurology - 1 Jun 2017
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
Abstract excerpt
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: To review the clinical, molecular, and genetic features of YARS2-related mitochondrial disease and to demonstrate a...
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