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 CASE REPORT
Year : 2018  |  Volume : 13  |  Issue : 2  |  Page : 205-207

Late-onset Leigh syndrome due to NDUFV1 mutation in a 10-year-old boy initially presenting with ataxia


1 Division of Child Neurology, Department of Pediatrics, Cukurova University, Adana, Turkey
2 Department of Medical Genetics, Cukurova University, Adana, Turkey
3 Division of Pediatric Metabolism, Faculty of Medicine, Cukurova University, Adana, Turkey

Correspondence Address:
Faruk Incecik
Toros Mah., Barış Manço Bul. 78178 Sok., Yeşilpark Evleri, A Blok, Kat:7/13, Çukurova, Adana
Turkey
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/JPN.JPN_138_17

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Leigh syndrome (LS) is a progressive neurodegenerative disease caused by either mitochondrial or nuclear DNA mutations resulting in dysfunctional mitochondrial energy metabolism. The onset of clinical features is typically between 3 and 12 months of age; however, a later onset has been described in a few patients. Complex I deficiency is reported to be the most common cause of mitochondrial disorders. We described a patient with a late-onset LS, who presented with gait ataxia, caused by complex I deficiency (NDUFV1 gene).






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