Linked Life Data

17761147

Source:http://linkedlifedata.com/resource/pubmed/id/17761147

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2007-9-11
pubmed:abstractText
We describe a young woman who presented with a progressive myopathy since the age of 9. Spectrophotometric analysis of the respiratory chain in muscle tissue revealed combined and profound complex I, III, II+III, and IV deficiency ranging from 60% to 95% associated with morphological and histochemical abnormalities of the muscle. An exhaustive screening of mitochondrial transfer and ribosomal RNAs showed a novel G>A substitution at nucleotide position 3090 which was detected only in urine sediment and muscle of the patient and was not found in her mother's blood cells and urine sample. We suggest that this novel de novo mutation in the 16S ribosomal RNA, a nucleotide which is highly conserved in different species, would impair mitochondrial protein synthesis and would cause a severe myopathy.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0006-291X
pubmed:author
pubmed:issnType
Print
pubmed:day
26
pubmed:volume
362
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
601-5
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
A novel mutation 3090 G>A of the mitochondrial 16S ribosomal RNA associated with myopathy.
pubmed:affiliation
Laboratoire de Biochimie, Centre Hospitalier et Universitaire de Caen, Avenue Côte de Nacre, 14033 Caen cedex, France.
pubmed:publicationType
Journal Article, Case Reports