TY - JOUR
T1 - A novel mutation in the mitochondrial tRNAPro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency
AU - Da Pozzo, Paola
AU - Cardaioli, Elena
AU - Malfatti, Edoardo
AU - Gallus, Gian Nicola
AU - Malandrini, Alessandro
AU - Gaudiano, Carmen
AU - Berti, Gianna
AU - Invernizzi, Federica
AU - Zeviani, Massimo
AU - Federico, Antonio
PY - 2009
Y1 - 2009
N2 - We present a patient with ataxia, retinitis pigmentosa, dysarthria, neurosensorial deafness, nystagmus and leukoencephalopathy. A novel heteroplasmic G to A transition at nucleotide 15975 was found, affecting the T arm of the mitochondrial (mt) tRNAPro gene. A biochemical analysis of respiratory chain enzymes in muscle revealed isolated complex I deficiency. This is the fourth pathogenic tRNAPro 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 tRNAPro mutations.
AB - We present a patient with ataxia, retinitis pigmentosa, dysarthria, neurosensorial deafness, nystagmus and leukoencephalopathy. A novel heteroplasmic G to A transition at nucleotide 15975 was found, affecting the T arm of the mitochondrial (mt) tRNAPro gene. A biochemical analysis of respiratory chain enzymes in muscle revealed isolated complex I deficiency. This is the fourth pathogenic tRNAPro 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 tRNAPro mutations.
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U2 - 10.1038/ejhg.2009.12
DO - 10.1038/ejhg.2009.12
M3 - Article
C2 - 19223931
AN - SCOPUS:67749106029
VL - 17
SP - 1092
EP - 1096
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 8
ER -