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

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Riley, Lisa G ^a,b   Menezes, Minal J ^a,b   Rudinger Thirion, Joëlle ^d   Duff, Rachael ^e   De Lonlay, Pascale ^f   Rotig, Agnes ^f   Tchan, Michel C ^c,g   Davis, Mark ^h   Cooper, Sandra T ^a,b   Christodoulou, John ^a,b,c  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

^d UNIVERSITÉ DE STRASBOURG   (France)

^e UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^f UNIVERSITÉ PARIS DESCARTES   (France)

^g WESTMEAD HOSPITAL   (Australia)

^h PATHWEST LABORATORY MEDICINE   (Australia)

Author keywords

Aminoacyl tRNA synthetase; Inborn error of metabolism; Lactic acidaemia; Mitochondrial myopathies; Mitochondrial respiratory chain; Muscle diseases; Mutation; Myopathy with lactic acidosis and sideroblastic anemia

Indexed keywords

MITOCHONDRIAL DNA; TYROSINE TRANSFER RNA LIGASE;

AMINOACYLATION; ARTICLE; BIOGENESIS; CELL PROLIFERATION; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; FIBROBLAST; GENE MUTATION; GENE SEQUENCE; GENETIC IDENTIFICATION; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; LACTIC ACIDOSIS; MALE; MITOCHONDRIAL MYOPATHY; MUSCLE CELL; MUSCLE DEVELOPMENT; PATHOGENICITY; PHENOTYPIC VARIATION; PUS1 GENE; SIDEROBLASTIC ANEMIA;

ACIDOSIS, LACTIC; ADOLESCENT; ADULT; ANEMIA, SIDEROBLASTIC; CHILD; CHILD, PRESCHOOL; DNA, MITOCHONDRIAL; FEMALE; HUMANS; HYDRO-LYASES; INFANT; INFANT, NEWBORN; MITOCHONDRIAL MYOPATHIES; TYROSINE-TRNA LIGASE; YOUNG ADULT;

EID: 84890262760     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-193     Document Type: Article

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