Neonatal encephalocardiomyopathy caused by mutations in VARS2

Metabolic Brain Disease

Volumn 32, Issue 1, 2017, Pages 267-270

  Baertling, Fabian ^a   Alhaddad, Bader ^b   Seibt, Annette ^a   Budaeus, Sonja ^a   Meitinger, Thomas ^b,c,d   Strom, Tim M ^b,c   Mayatepek, Ertan ^a   Schaper, Jörg ^e   Prokisch, Holger ^b,c   Haack, Tobias B ^b,c   Distelmaier, Felix ^a  

^a UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

^d Technische Universität München Munich Cluster for Systems Neurology   (Germany)

^e HEINRICH HEINE UNIVERSITY   (Germany)

Author keywords

Aminoacyl tRNA synthtetase; Cardiomyopathy; Mitochondrial disease; OXPHOS; VARS2

Indexed keywords

2 OXO 3 METHYL N VALERIC ACID; 2 OXOISOCAPROIC ACID; ACETYLSALICYLIC ACID; BICARBONATE; BIOTIN; BISOPROLOL; BRANCHED CHAIN AMINO ACID; CARNITINE; FUROSEMIDE; LACTIC ACID; MILRINONE; PYRUVIC ACID; RIBOFLAVIN; THIAMINE; UBIDECARENONE; UNCLASSIFIED DRUG; VALERIC ACID; VALINE TRANSFER RNA LIGASE; VALYL TRNA SYNTHETASE 2; HLA ANTIGEN; VARS2 PROTEIN, HUMAN;

AMINO ACID METABOLISM; APGAR SCORE; APNEA; ARTICLE; ARTIFICIAL VENTILATION; BASAL GANGLION; BRAIN EDEMA; BRAIN STEM; CARNITINE DEFICIENCY; CASE REPORT; CATABOLISM; CLONIC SEIZURE; COMPARATIVE STUDY; CONTROLLED STUDY; CORPUS CALLOSUM; DIVERGENT STRABISMUS; ECHOCARDIOGRAPHY; ELECTROENCEPHALOGRAPHY; EPILEPSY; FACE MUSCLE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIATION; GESTATIONAL AGE; HEART LEFT VENTRICLE EJECTION FRACTION; HEART LEFT VENTRICLE FUNCTION; HEART LEFT VENTRICLE HYPERTROPHY; HEART VENTRICLE THROMBOSIS; HETEROZYGOSITY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; HYPOPLASIA; LACTATE BLOOD LEVEL; LACTIC ACIDOSIS; MALE; MICROCEPHALY; MITOCHONDRIAL ENCEPHALOMYOPATHY; MOTOR DYSFUNCTION; MUSCLE TONE; NEONATAL ENCEPHALOCARDIOMYOPATHY; NEUROIMAGING; NEUROLOGIC DISEASE; NEWBORN; NEWBORN DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PHARMACEUTICAL CARE; PHENOTYPE; RESPIRATORY FAILURE; RESPIRATORY TRACT INTUBATION; SANGER SEQUENCING; SKIN FIBROBLAST; SMALL FOR DATE INFANT; SPASTICITY; URINE LEVEL; VENTRICULAR NONCOMPACTION; WHITE MATTER; WHOLE EXOME SEQUENCING; DNA MUTATIONAL ANALYSIS; EXOME; GENETICS; MUTATION;

CARDIOMYOPATHY, HYPERTROPHIC; DNA MUTATIONAL ANALYSIS; EPILEPSY; EXOME; HLA ANTIGENS; HUMANS; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUTATION; VALINE-TRNA LIGASE;

EID: 84981266930     PISSN: 08857490     EISSN: 15737365     Source Type: Journal    
DOI: 10.1007/s11011-016-9890-2     Document Type: Article

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