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

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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