Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

  1. Bianca Hartmann
  2. Timothy Wai
  3. Hao Hu
  4. Thomas MacVicar
  5. Luciana Musante
  6. Björn Fischer-Zirnsak
  7. Werner Stenzel
  8. Ralph Graef
  9. Lambert van den Heuvel
  10. Hans-Hilger Ropers
  11. Thomas F Wienker
  12. Christoph Hübner
  13. Thomas Langer
  14. Angela M Kaindl  Is a corresponding author
  1. Charité University Medicine, Germany
  2. Institut Necker Enfants Malades, INSERM U1151, CNRS UMR 8253, France
  3. Guangzhou Women and Children's Medical Center, China
  4. Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, Germany
  5. Max Planck Institute for Molecular Genetics, Germany
  6. University of Potsdam, Germany
  7. Radboud University Medical Center, Netherlands
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  1. Bianca Hartmann
  2. Timothy Wai
  3. Hao Hu
  4. Thomas MacVicar
  5. Luciana Musante
  6. Björn Fischer-Zirnsak
  7. Werner Stenzel
  8. Ralph Graef
  9. Lambert van den Heuvel
  10. Hans-Hilger Ropers
  11. Thomas F Wienker
  12. Christoph Hübner
  13. Thomas Langer
  14. Angela M Kaindl
(2016)
Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation
eLife 5:e16078.
https://doi.org/10.7554/eLife.16078