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June 21, 1994Proceedings of the National Academy of SciencesOpen Access

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.

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Authors

AJA. S. JunWestlake UniversityMBM.D. BrownUniversity of ManchesterDWDouglas C. WallaceChildren's Hospital of Philadelphia

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Jun et al. (1994) studied this question.

synapsesocial.com/papers/6aa8f1685ea9f476fd6bfabfhttps://doi.org/10.1073/pnas.91.13.6206
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Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases1992 · 193 citations
  2. 2The mitochondrial genomes of two nematodes, Caenorhabditis elegans and Ascaris suum.1992 · 506 citations
  3. 3Leber's disease and dystonia1986 · 151 citations
  4. 4Electron transfer complex I defect in idiopathic dystonia1992 · 78 citations