Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Acham-Roschitz, B; Plecko, B; Lindbichler, F; Bittner, R; Mache, CJ; Sperl, W; Mayr, JA.
A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy.
Mol Genet Metab. 2009; 98(3):300-304
Doi: 10.1016/j.ymgme.2009.06.012
(- Case Report)
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PubMed
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- Führende Autor*innen der Med Uni Graz
- Acham-Roschitz Birgit
- Plecko Barbara
- Co-Autor*innen der Med Uni Graz
- Lindbichler Franz
- Mache Christoph
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- Abstract:
- A baby-girl with congenital deafness was admitted at the age of 8 weeks for lack of head control, truncal hypotonia and echodense kidneys. At the age of 10 weeks cranial MRI showed a normal brain structure, generalized mild hypomyelination but no lactate peak on (1)H MR spectroscopy. A combined defect of respiratory chain enzyme complexes I, III, IV and V and severe depletion of mitochondrial DNA was found in skeletal muscle tissue. Genetic analysis revealed a novel mutation c.368T>C (p.Phe123Ser) in the RRM2B gene in the expressed maternal allele. The paternal allele was present in genomic DNA, but was not expressed as mature mRNA.
- Find related publications in this database (using NLM MeSH Indexing)
- Brain - metabolism
- Cell Cycle Proteins - genetics
- Deafness - complications
- Female -
- Genetic Predisposition to Disease -
- Humans -
- Infant -
- Mitochondrial Encephalomyopathies - complications
- Mitochondrial Encephalomyopathies - genetics
- Mitochondrial Encephalomyopathies - pathology
- Muscle, Skeletal - metabolism
- Mutation -
- Ribonucleotide Reductases - genetics
- Find related publications in this database (Keywords)
- RRM2B-mutation
- Infant
- Encephalomyopathy
- Central hypomyelination
- Tubulopathy