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Article

Expanding the Phenotypic Spectrum of NDUFS6-Related Disease: From Neonatal Mitochondrial Encephalopathy to Childhood-Onset Axonal Neuropathy.

International journal of molecular sciences - 29 Jan 2026

Baris Savas, Ipek Rojan, Baris Saniye Tugba, Baris Ibrahim

Abstract excerpt

Biallelic variants in NDUFS6, encoding an accessory subunit of mitochondrial complex I, were initially associated with lethal neonatal mitochondrial encephalopathy and Leigh syndrome. Recent studies have demonstrated that NDUFS6 variants can also cause childhood- or adolescent-onset axonal neuropathy and Charcot-Marie-Tooth (CMT)-like phenotypes, indicating marked clinical heterogeneity. Here, we report a patient...

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Identifiers

PMID: 41683799
DOI: 10.3390/ijms27031375
PMCID: PMC12898639

Genes

NDUFS6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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