A novel mutation in the mitochondrial tRNAPro gene associated with late-onset ataxia, retinitis pigm...
A novel mutation in the mitochondrial tRNAPro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency
About this item
Full title
Author / Creator
Publisher
Cham: Springer International Publishing
Journal title
Language
English
Formats
Publication information
Publisher
Cham: Springer International Publishing
Subjects
More information
Scope and Contents
Contents
We present a patient with ataxia, retinitis pigmentosa, dysarthria, neurosensorial deafness, nystagmus and leukoencephalopathy. A novel heteroplasmic G to A transition at nucleotide 15 975 was found, affecting the T arm of the mitochondrial (mt)
tRNA
Pro
gene. A biochemical analysis of respiratory chain enzymes in muscle revealed isolated...
Alternative Titles
Full title
A novel mutation in the mitochondrial tRNAPro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2986557
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2986557
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2009.12
