Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene

Molecular and Cellular Probes

Volumn 29, Issue 5, 2015, Pages 319-322

  Köhler, Cornelia ^a   Heyer, Christoph ^a   Hoffjan, Sabine ^a   Stemmler, Susanne ^a   Lücke, Thomas ^a   Thiels, Charlotte ^a   Kohlschütter, Alfried ^b   Löbel, Ulrike ^b   Horvath, Rita ^c   Kleinle, Stephanie ^d   Benet Pages, Anna ^d   Abicht, Angela ^d  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d Medical Genetic Centre   (Germany)

Author keywords

DARS2; LBSL; Leukoencephalopathy; Magnetic resonance imaging; Mitochondriopathy

Indexed keywords

AMINO ACID; ASCORBIC ACID; CARBOXYLIC ACID; CEREBROSIDE SULFATASE; CREATINE; GALACTOSYLCERAMIDASE; UBIDECARENONE; VERY LONG CHAIN FATTY ACID; ASPARTATE TRANSFER RNA LIGASE; DARS2 PROTEIN, HUMAN;

ARTICLE; ATAXIA; ATTENTION DISTURBANCE; CASE REPORT; CHILD; COGNITION; DARS2 GENE; DETERIORATION; DIFFUSION WEIGHTED IMAGING; DISEASE SEVERITY; GENE; GENOME ANALYSIS; HOMOZYGOTE; HUMAN; INFANT; IRRITABILITY; LANGUAGE DEVELOPMENT; LEUKOENCEPHALOPATHY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PEDIGREE; PERCEPTION DEAFNESS; PHYSIOTHERAPY; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; PSYCHOMOTOR RETARDATION; REMISSION; RESPIRATORY TRACT INFECTION; SOCIAL BEHAVIOR; WHITE MATTER; DNA SEQUENCE; GENETIC PREDISPOSITION; GENETICS; LEUKOENCEPHALOPATHIES;

AGE OF ONSET; ASPARTATE-TRNA LIGASE; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; INFANT; LEUKOENCEPHALOPATHIES; MALE; MUTATION, MISSENSE; PEDIGREE; SEQUENCE ANALYSIS, DNA;

EID: 84946238415     PISSN: 08908508     EISSN: 10961194     Source Type: Journal    
DOI: 10.1016/j.mcp.2015.06.005     Document Type: Article

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