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

L.G. Riley, M.J. Menezes, J. Rudinger-Thirion, Rachael Duff, P. De Lonlay, A. Rotig, M.C. Tchan, M. Davis, S.T. Cooper, J. Christodoulou

Research output: Contribution to journalArticle

35 Citations (Scopus)
Original languageEnglish
Pages (from-to)11pp
JournalOrphanet Journal of Rare Diseases
Volume8
DOIs
Publication statusPublished - 2013

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