ArticleOxford medical case reports2025
Mitochondrial complex I deficiency in a 4-year-old boy due to compound heterozygous NDUFV1 mutation: a case report of a new pathogenic variant.
Article in Oxford medical case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Mitochondrial complex I deficiency-associated diseases and models.Cellular and molecular life sciences : CMLS · 2026Review
- Novel NDUFV1 variant in progressive cavitating leukodystrophy with microcephaly: a case report.BMC pediatrics · 2026Article
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9 authors.
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Abstract
Mutations in the NDUFV1 gene are associated with mitochondrial complex I deficiency and have been linked to various clinical conditions such as Leigh syndrome, severe infantile lactic acidosis, newborn cardiomyopathy, progressive leukoencephalopathy, and other encephalomyopathies. Genetic alterations revealed mitochondrial complex 1 deficiency, nuclear type 4 |AR: two compound heterozygous missense mutations in the NDUFV1 gene, c.640G < A (p.E214K) chr11:67377981 (Exon 1) and c.248C < T (p.S83L) chr11:67376115 (Exon 3) gene. Our case identifies a previously unknown pathogenic effect of the variant 'c.248C > T' in the NDUFV1 gene, observed in a 4-year-old boy with left-sided facial paralysis and balance impairment. While this discovery is significant, further exploration of NDUFV1 gene variants is essential for a comprehensive understanding and effective treatment strategies.
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