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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Autori principali:	Qi Yang, Qiang Zhang, Xunzhao Zhou, Zailong Qin, Xuanjing Liang, Sheng Yi, Shujie Zhang, Weiliang Lu, Shang Yi, Jingsi Luo
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Frontiers Media S.A. 2026-03-01
Serie:	Frontiers in Neurology
Soggetti:	complex I deficiency Leigh syndrome NDUFAF6 gene novel variant whole-exome sequencing
Accesso online:	https://www.frontiersin.org/articles/10.3389/fneur.2026.1778719/full
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