Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
1999787 | Molecular Genetics and Metabolism | 2009 | 5 Pages |
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 1H 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.
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Authors
Birgit Acham-Roschitz, Barbara Plecko, Franz Lindbichler, Reginald Bittner, Christoph J. Mache, Wolfgang Sperl, Johannes A. Mayr,