期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 17, 期 8, 页码 1092-1096出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2009.12
关键词
mtDNA; transfer RNA(Pro); mitochondrial disease
资金
- University of Siena
- Regione Toscana
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 complex I deficiency. This is the fourth pathogenic tRNA(Pro) point mutation to be associated with an mt disorder. The result highlights the importance of molecular dissection of mtDNA in patients with defined mt disorder and confirms the clinical and biochemical heterogeneity associated with tRNA(Pro) mutations. European Journal of Human Genetics (2009) 17, 1092-1096; doi:10.1038/ejhg.2009.12; published online 18 February 2009
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