Mitochondrial oxidative phosphorylation disorders in children: Phenotypic, genotypic and biochemical correlations in 85 patients from South India

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• 作者：Kothari Sonam^a ; ^f ; Parayil Sankaran Bindu^b ; ^f ; ^{drpsbindu@yahoo.co.in} ; MM Srinivas Bharath^c ; Periyasamy Govindaraj^b ; ^f ; Narayanappa Gayathri^d ; ^f ; Hanumanthapura R Arvinda^e ; Shwetha Chiplunkar^a ; ^f ; Madhu Nagappa^b ; ^f ; Sanjib Sinha^b ; Nahid Akhtar Khan^g ; Vandana Nunia^g ; Arumugam Paramasivam^g ; Kumarasamy Thangaraj^g ; Arun B Taly^b ; ^f
• 关键词：Oxidative phosphorylation disorders ; mtDNA ; POLG1 ; SURF
• 刊名：Mitochondrion
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：32
• 期：Complete
• 页码：42-49
• 全文大小：317 K
• 卷排序：32

文摘

Eighty five children with mitochondrial OXPHOS disorders from India were studied. Isolated complex I deficiency was most common followed by multiple complexes, complex IV and complex III deficiencies. The most frequent neurological findings were ataxia and hypotonia followed by involuntary movements. Genetic analysis revealed variations in mitochondrial DNA, SURF1, and POLG1. This study highlights the wide range of phenotypes in children with OXPHOS disorders from India.