Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.
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author: Lisenka Vissers, Herma Renkema, Martin Lammens, Richard J Rodenburg, Joachim M Gerhold, Tamas Kozicz, Ewa Pronicka, Christian Gilissen, Hans van Bokhoven, Joris A Veltman, Johannes N Spelbrink, Janneke H M Schuurs-Hoeijmakers, Arjan P M de Brouwer, Peter M van Hasselt, Dirk J Lefeber, Karin Naess, Anne Grünewald, Frédéric M Vaz, Christine Klein, Ron A. Wevers, Thatjana Gardeitchik, Eva Morava, Johannes Albertus Maria Smeitink
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