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. 2000 Apr 17;66(6):1900–1904. doi: 10.1086/302927

Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy.

O Musumeci 1, A L Andreu 1, S Shanske 1, N Bresolin 1, G P Comi 1, R Rothstein 1, E A Schon 1, S DiMauro 1
PMCID: PMC1378040  PMID: 10775530

Abstract

We report an unusual molecular defect in the mitochondrially encoded ND1 subunit of NADH ubiquinone oxidoreductase (complex I) in a patient with mitochondrial myopathy and isolated complex I deficiency. The mutation is an inversion of seven nucleotides within the ND1 gene, which maintains the reading frame. The inversion, which alters three highly conserved amino acids in the polypeptide, was heteroplasmic in the patient's muscle but was not detectable in blood. This is the first report of a pathogenic inversion mutation in human mtDNA.

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Selected References

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