Associated Papers
Expanding the Phenotypic Spectrum of NDUFS6-Related Disease: From Neonatal Mitochondrial Encephalopathy to Childhood-Onset Axonal Neuropathy.
Baris S et al.
International Journal of Molecular Sciences, 2026
A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy.
Gangfuß A et al.
Journal of Neuromuscular Diseases, 2024
38217609 (PubMed )
Supplement: jnd-11-jnd230181-s001.xlsx › Tabelle1
Case report: novel mutations of NDUFS6 and NHLRC2 genes potentially cause the quick postnatal death of a Chinese Hani minority neonate with mitochondrial complex I deficiency and FINCA syndrome.
Li Y et al.
Medicine, 2022
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