@article{riley:inserm-00921185, TITLE = {{Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.}}, AUTHOR = {Riley, Lisa and Menezes, Minal and Rudinger-Thirion, Jo{\"e}lle and Duff, Rachael and de Lonlay, Pascale and Rotig, Agnes and Tchan, Michel and Davis, Mark and Cooper, Sandra and Christodoulou, John}, URL = {https://inserm.hal.science/inserm-00921185}, JOURNAL = {{Orphanet Journal of Rare Diseases}}, PUBLISHER = {{BioMed Central}}, VOLUME = {8}, NUMBER = {1}, PAGES = {193}, YEAR = {2013}, MONTH = Dec, DOI = {10.1186/1750-1172-8-193}, 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}, PDF = {https://inserm.hal.science/inserm-00921185/file/1750-1172-8-193.pdf}, HAL_ID = {inserm-00921185}, HAL_VERSION = {v1}, }