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

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 readin...

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Detalhes bibliográficos
Main Authors: Musumeci, O, Andreu, A L, Shanske, S, Bresolin, N, Comi, G P, Rothstein, R, Schon, E A, DiMauro, S
Formato: Artigo
Idioma:Inglês
Publicado em: 2000
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1378040/
https://ncbi.nlm.nih.gov/pubmed/10775530
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