Article
Association between trinucleotide CAG repeats of the DNA polymerase gene (POLG) with age of onset of Iranian Friedreich's ataxia patients.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Dec 2008
Heidari Mohammad Mehdi, Houshmand Massoud, Hosseinkhani Saman, Nafissi Shahriar, Scheiber-Mojdehkar Barbara, Khatami Mehri
Abstract excerpt
Friedreich's ataxia (FRDA), an autosomal recessive neurodegenerative disorder, is in most cases due to a homozygous intronic expansion resulting in the loss of function of frataxin. As mitochondrial DNA (mtDNA) copy number has been decreased in FRDA cells and mtDNA polymerase (POLG) is involved in the replication of mtDNA, we searched a trinucleotide CAG repeat length of this enzyme. The POLG CAG repeat length...
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