Article
Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy.
American journal of human genetics - 1 Jun 2000
Musumeci O, Andreu A L, Shanske S, Bresolin N, Comi G P, Rothstein R, Schon E A, DiMauro S
Abstract excerpt
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...
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