A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy

Molecular Genetics and Metabolism

Volumn 98, Issue 3, 2009, Pages 300-304

  Acham Roschitz, Birgit ^a   Plecko, Barbara ^a   Lindbichler, Franz ^a   Bittner, Reginald ^b   Mache, Christoph J ^a   Sperl, Wolfgang ^c   Mayr, Johannes A ^c  

^a MEDICAL UNIVERSITY OF GRAZ   (Austria)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

^c PARACELSUS MEDICAL UNIVERSITY   (Austria)

Author keywords

Central hypomyelination; Encephalomyopathy; Infant; RRM2B mutation; Tubulopathy

Indexed keywords

CYTOCHROME C OXIDASE; GENOMIC DNA; LACTIC ACID; MESSENGER RNA; MITOCHONDRIAL COMPLEX V; MITOCHONDRIAL DNA; OXIDOREDUCTASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); RIBONUCLEOTIDE REDUCTASE; RIBONUCLEOTIDE REDUCTASE M2 B; UBIQUINOL CYTOCHROME C REDUCTASE; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CASE REPORT; CENTRAL HYPOMYELINATION; CENTRAL NERVOUS SYSTEM DISEASE; CONGENITAL DEAFNESS; ENCEPHALOMYOPATHY; ENZYME DEFECT; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; INFANT; KIDNEY CALCIFICATION; KIDNEY PROXIMAL TUBULE; KIDNEY TUBULE DISORDER; MITOCHONDRIAL DNA DEPLETION; MOLECULAR GENETICS; MUSCLE HYPOTONIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; RESPIRATORY CHAIN; SINGLE NUCLEOTIDE POLYMORPHISM; SKELETAL MUSCLE;

BRAIN; CELL CYCLE PROTEINS; DEAFNESS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUSCLE, SKELETAL; MUTATION; RIBONUCLEOTIDE REDUCTASES;

EID: 70349734469     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.06.012     Document Type: Article

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