Linked Life Data

19616983

Source:http://linkedlifedata.com/resource/pubmed/id/19616983

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2009-10-13
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
1096-7206
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
98
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
300-4
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy.
pubmed:affiliation
Department of Pediatrics, Medical University Graz, Graz, Austria.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't