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Clinical and genetic analysis of Chinese patients with Leigh syndrome caused by biallelic loss-of-function variants of the NDUFAF6 gene

Leigh syndrome (LS) is the most common pediatric mitochondrial disorder, typically presenting in infancy with developmental regression, neurological dysfunction, and characteristic brain MRI lesions. It is linked to over 110 genes affecting cellular energy production, making it highly genetically he...

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Principais autores: Qi Yang, Qiang Zhang, Xunzhao Zhou, Zailong Qin, Xuanjing Liang, Sheng Yi, Shujie Zhang, Weiliang Lu, Shang Yi, Jingsi Luo
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2026-03-01
coleção:Frontiers in Neurology
Assuntos:
complex I deficiency
Leigh syndrome
NDUFAF6 gene
novel variant
whole-exome sequencing
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fneur.2026.1778719/full
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