A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia

Human Mutation

Volumn 33, Issue 8, 2012, Pages 1201-1206

  Sasarman, Florin ^a,b   Nishimura, Tamiko ^a,b   Thiffault, Isabelle ^a,b   Shoubridge, Eric A ^a,b  

^a MCGILL UNIVERSITY   (Canada)

^b MCGILL UNIVERSITY   (Canada)

Author keywords

Mitochondrial aminoacyl tRNA synthetase; Mitochondrial translation; MLASA; MTU1; TRMU; YARS2

Indexed keywords

MITOCHONDRIAL TYROSYL TRNA SYNTHASE; SYNTHETASE; UNCLASSIFIED DRUG;

ARTICLE; CELL DIFFERENTIATION; CONTROLLED STUDY; HUMAN; HUMAN CELL; IMMUNOBLOTTING; LACTIC ACIDOSIS; MISSENSE MUTATION; MYOBLAST; MYOPATHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RESPIRATORY CHAIN; SIDEROBLASTIC ANEMIA;

ACIDOSIS, LACTIC; ADULT; ANEMIA, SIDEROBLASTIC; CELLS, CULTURED; HUMANS; MITOCHONDRIAL PROTEINS; MUSCULAR DISEASES; MUTATION; MYOBLASTS; TRNA METHYLTRANSFERASES; TYROSINE-TRNA LIGASE;

EID: 84863880664     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22098     Document Type: Article

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