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Article

Novel mitochondrial mutation in the ND4 gene associated with Leigh syndrome.

Acta neurologica Scandinavica - 1 Nov 2006

Vanniarajan A, Rajshekher G P, Joshi M B, Reddy A G, Singh L, Thangaraj K

Abstract excerpt

We analyzed the complete mitochondrial genome of a 3-month-old female child with basal ganglionic lesions and other clinical features suggestive of Leigh syndrome, which is caused by variations in mitochondrial and nuclear genes. Our study revealed a novel, homoplasmic T11984C missense mutation in ND4 gene, which replaces a highly conserved amino acid tyrosine with histidine. Computational analysis showed that...

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PMID: 17022785
DOI: 10.1111/j.1600-0404.2006.00673.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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