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Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform
Institution:1. Sanford Children''s Health Research Center, Sioux Falls, SD, USA;2. Division of Pediatric Neurology, Sanford Children''s Specialty Clinic, Sioux Falls, SD, USA;3. Division of Pediatric Neurology, College of Medicine, King Saud University,Riyadh, Saudi Arabia;4. School of Medicine and Medical Science, University College Dublin, Dublin, Ireland, UK;5. Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia;6. Department of Physiology, College of Medicine, King Saud University, Riyadh, Saudi Arabia;7. Department of Neurosciences, Armed Forces Hospital, Riyadh, Saudi Arabia;8. Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia;9. Reta Lila Weston Laboratories and Department of Molecular Neuroscience, UK;10. Department of Medical Genetics, Faculty of Biology and Medicine, University of Lausanne, Switzerland;11. Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia;12. Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia;1. Department of Clinical Ophthalmology, Medical University of Warsaw, Warsaw, Poland;2. 2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland;3. Department of Neurology and Epileptology, The Children''s Memorial Health Institute, Warsaw, Poland
Abstract:Mitochondria membrane protein-associated neurodegeneration (MPAN) neurodegenerative disorder is typically associated with biallelic C19orf12 variants. Here we describe a new and review candidate previous monoallelic de novo C19orf12 variants to define loss of function mutations located in the putative non-membrane spanning C19orf12 isoform as the potential basis of monoallelic MPAN.
Keywords:NBIA  MPAN  C19orf12
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