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

Published 2013 View Full Article

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Title
Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia
Authors
Keywords
Mitochondrial respiratory chain, Myopathy with lactic acidosis and sideroblastic anemia, Aminoacyl tRNA-synthetase, Mitochondrial myopathies, Muscle diseases, Lactic acidaemia, Inborn error of metabolism, Mutation
Journal
Orphanet Journal of Rare Diseases
Volume 8, Issue 1, Pages 193
Publisher
Springer Nature
Online
2013-12-18
DOI
10.1186/1750-1172-8-193

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