A novel mitochondrial DNA variant in MT-ND6: m.14430A>C p.(Trp82Gly) identified in a patient with Leigh syndrome and complex I deficiency

Leigh syndrome is a severe progressive mitochondrial disorder mainly affecting children under the age of 5 years. It is caused by pathogenic variants in any one of more than 75 known genes in the nuclear or mitochondrial genomes.A 19-week-old male infant presented with lactic acidosis and encephalop...

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Bibliographic Details
Main Authors:	Surita Meldau, Sally Ackermann, Gillian Riordan, George F. van der Watt, Careni Spencer, Sharika Raga, Kashief Khan, Dee M. Blackhurst, Francois H. van der Westhuizen
Format:	Article
Language:	English
Published:	Elsevier 2024-06-01
Series:	Molecular Genetics and Metabolism Reports
Subjects:	MT-DN6 Leigh syndrome Novel mtDNA variant Complex I deficiency
Online Access:	http://www.sciencedirect.com/science/article/pii/S2214426924000314

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http://www.sciencedirect.com/science/article/pii/S2214426924000314

A novel mitochondrial DNA variant in MT-ND6: m.14430A>C p.(Trp82Gly) identified in a patient with Leigh syndrome and complex I deficiency

Internet

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