PMID: 9631394Jun 19, 1998Paper

Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome

Neuromuscular Disorders : NMD
M MakinoI Nonaka

Abstract

Among 80 patients with the clinical and brain imaging characteristics of Leigh's syndrome, 11 patients had a well-known mutation at nucleotide position (nt) 8993 in mitochondrial DNA. In addition, three patients had a T-to-C mutation at nt 9176 which had been described previously in only two brothers with bilateral striatal necrosis and one patient with Leigh's syndrome. In our three patients, one had the typical clinical characteristics of Leigh's syndrome from early infancy, and two had the later onset of neurological deficits. All had a slowly progressive course and basal ganglia abnormalities by neuroimaging. As nt 8993 and 9176 are located in the ATPase 6 coding region, altered ATPase function may be one of the enzyme abnormalities in Leigh's syndrome and other similar conditions with bilateral striatal necrosis.

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Citations

Aug 27, 2005·Mitochondrion·Kazutoshi NakanoShigeo Ohta
Sep 14, 2012·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·Matthis SynofzikLudger Schöls
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Jul 14, 2016·Molecular Genetics and Metabolism Reports·Miguel ChuquilinEsperanza Font-Montgomery
Aug 23, 2016·Molecular Genetics and Metabolism Reports·Miguel ChuquilinEsperanza Font Montgomery
Sep 23, 2008·Pediatric Neurology·Josef Finsterer
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Jun 21, 2005·Annals of the New York Academy of Sciences·Chin-Yuan Tzen, Tsu-Yen Wu
Jan 17, 2020·DNA and Cell Biology·Ngoc Ngo Yen NguyenYong Hwa Jo
Mar 8, 2018·Molecular Medicine Reports·Chamara Arachchighe Lahiru WeerasingheTuan-Nghia Phan
Feb 15, 2005·Molecular Human Reproduction·L J A M JacobsH J M Smeets
Apr 20, 2018·Frontiers in Physiology·Alain DautantRoza Kucharczyk

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