Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease

BMC Medical Genetics

Volumn 15, Issue 1, 2014, Pages

  McMillan, Hugh J ^a   Schwartzentruber, Jeremy ^b   Smith, Amanda ^c   Lee, Suzie ^a   Chakraborty, Pranesh ^a   Bulman, Dennis E ^a   Beaulieu, Chandree L ^a   Majewski, Jacek ^b   Boycott, Kym M ^a   Geraghty, Michael T ^a  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c OTTAWA HOSPITAL RESEARCH INSTITUTE   (Canada)

Author keywords

Amino acyl tRNA synthetase; Cardiomyopathy; Charcot Marie tooth disease; Glycyl tRNA synthetase

Indexed keywords

ALANINE; CREATINE; GLYCINE TRANSFER RNA LIGASE; LACTIC ACID; MINDBOMB E3 UBIQUITIN PROTEIN LIGASE 1; TROPONIN T; UBIQUITIN PROTEIN LIGASE E3; UNCLASSIFIED DRUG;

ANTICODON; ARTICLE; CARDIOVASCULAR MAGNETIC RESONANCE; CASE REPORT; CHILD; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EXERCISE TOLERANCE; EXOME; FEMALE; GENE MUTATION; GENE SEQUENCE; HEART LEFT VENTRICLE EJECTION FRACTION; HETEROZYGOTE; HUMAN; HUMAN TISSUE; INDEL MUTATION; LACTATE BLOOD LEVEL; LEUKOMALACIA; MUSCLE BIOPSY; MYALGIA; NEUROIMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYNEUROPATHY; QUADRICEPS FEMORIS MUSCLE; SCHOOL CHILD; SYSTEMIC MITOCHONDRIAL DISEASE; VENTRICULAR NONCOMPACTION;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; DNA MUTATIONAL ANALYSIS; EXERCISE TOLERANCE; FEMALE; GLYCINE-TRNA LIGASE; HETEROZYGOTE; HUMANS; LEUKOMALACIA, PERIVENTRICULAR; MITOCHONDRIAL DISEASES; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION, MISSENSE; MYALGIA; PEDIGREE;

EID: 84897447947     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-15-36     Document Type: Article

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