A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations

American Journal of Medical Genetics, Part A

Volumn 161, Issue 9, 2013, Pages 2334-2338

  Shahni, Rojeen ^a   Wedatilake, Yehani ^a   Cleary, Maureen A ^b   Lindley, Keith J ^b   Sibson, Keith R ^b   Rahman, Shamima ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

Lactic acidosis; Mitochondrial disease; Mitochondrial myopathy; MLASA; Sideroblastic anemia; YARS2

Indexed keywords

ARTICLE; BONE MARROW BIOPSY; CASE REPORT; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; IRON DEFICIENCY ANEMIA; LACTIC ACIDOSIS; MALE; MITOCHONDRIAL MYOPATHY LACTIC ACIDOSIS AND SIDEROBLASTIC ANEMIA SYNDROME; MUTATIONAL ANALYSIS; MUTATOR GENE; MYOPATHY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESPIRATORY FAILURE; SCHOOL CHILD; SEQUENCE ANALYSIS; WEIGHT GAIN; YARS2 GENE;

LACTIC ACIDOSIS; MITOCHONDRIAL DISEASE; MITOCHONDRIAL MYOPATHY; MLASA; SIDEROBLASTIC ANEMIA; YARS2;

ACIDOSIS, LACTIC; ANEMIA, SIDEROBLASTIC; BONE MARROW; DNA MUTATIONAL ANALYSIS; GENOTYPE; HUMANS; INFANT; MALE; MITOCHONDRIAL MYOPATHIES; MUTATION; PHENOTYPE; SYNDROME; TYROSINE-TRNA LIGASE;

EID: 84881661365     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36065     Document Type: Article

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