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Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

Lisa Riley , Minal Menezes , Joëlle Rudinger-Thirion , Rachael Duff , Pascale de Lonlay et al.
Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.193. ⟨10.1186/1750-1172-8-193⟩
Journal articles inserm-00921182v1

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2

Lisa Riley , Matthew Heeney , Joëlle Rudinger-Thirion , Magali Frugier , Dean Campagna et al.
Haematologica, 2018, 103 (12), pp.2008-2015. ⟨10.3324/haematol.2017.182659⟩
Journal articles hal-02118688v1
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Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

Lisa Riley , Minal Menezes , Joëlle Rudinger-Thirion , Rachael Duff , Pascale de Lonlay et al.
Orphanet Journal of Rare Diseases, 2013, 8 (1), pp.193. ⟨10.1186/1750-1172-8-193⟩
Journal articles inserm-00921185v1