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

Olimpia Musumeci, Antoni L. Andreu, Sara Shanske, Nereo Bresolin, Giacomo P. Comi, Rodney Rothstein, Eric A. Schon, Salvatore DiMauro

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1900-1904
Number of pages5
JournalAmerican Journal of Human Genetics
Volume66
Issue number6
DOIs
Publication statusPublished - 2000

ASJC Scopus subject areas

  • Genetics

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