What is influencing the phenotype of the common homozygous polymerase-gamma mutation p.Ala467Thr?

Vivienne C. M. Neeve, David C. Samuels, Laurence A. Bindoff, Bianca van den Bosch, Gert Van Goethem, Hubert Smeets, Anne Lombes, Claude Jardel, Michio Hirano, Salvatore DiMauro, Maaike C. de Vries, Jan Smeitink, Bart W. Smits, Ireneus F. M. de Coo, Carsten Saft, Thomas Klopstock, Bianca-Cortina Keiling, Birgit Czermin, Angela Abicht, Hanns LochmuellerGavin Hudson, Grainne G. Gorman, Doug M. Turnbull, Robert W. Taylor, Elke Holinski-Feder, Patrick F Chinnery, Rita Horvath

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)3614-3626
JournalBrain
Volume135
Issue number12
DOIs
Publication statusPublished - Dec 2012

Keywords

  • mitochondrial diseases
  • neuromuscular disorders
  • genetics
  • phenotype
  • molecular biology

Cite this

Neeve, V. C. M., Samuels, D. C., Bindoff, L. A., van den Bosch, B., Van Goethem, G., Smeets, H., Lombes, A., Jardel, C., Hirano, M., DiMauro, S., de Vries, M. C., Smeitink, J., Smits, B. W., de Coo, I. F. M., Saft, C., Klopstock, T., Keiling, B-C., Czermin, B., Abicht, A., ... Horvath, R. (2012). What is influencing the phenotype of the common homozygous polymerase-gamma mutation p.Ala467Thr? Brain, 135(12), 3614-3626. https://doi.org/10.1093/brain/aws298