PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway

Affiliations

• ¹ Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerpen, Belgium.
• ² Translational Neurosciences, Faculty of Medicine and Health Sciences, UAntwerpen, Antwerp, Belgium.
• ³ Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerpen, Belgium.
• ⁴ Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.
• ⁵ German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
• ⁶ Dr. John T Macdonald Foundation Department of Human Genetics and Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.
• ⁷ KU Leuven - University of Leuven, Department of Neurosciences, Experimental Neurology, and Leuven Brain Institute (LBI), Leuven, Belgium.
• ⁸ VIB, Center for Brain and Disease Research, Laboratory of Neurobiology, Leuven, Belgium.
• ⁹ University Hospitals Leuven, Department of Neurology, Leuven, Belgium.
• ¹⁰ University Hospitals Leuven, Department of Ophthalmology, Leuven, Belgium.