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C19orf12 mutation causing mitochondrial membrane-protein Associated Neurodegeneration masquerading as spastic paraplegia |
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| Affiliation: | 1. School of Biology, College of Science, University of Tehran, Tehran, Iran;2. Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran;3. Department of Neurology, Tehran University of Medical Sciences, Tehran, Iran;4. Department of Neurology, Iran University of Medical Sciences, Hazrat Rasool Hospital, Tehran, Iran;5. Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran;6. Department of Oncology, Albert Einstein College of Medicine/Montefiore Medical Center, Bronx, NY, USA |
| Abstract: | Mitochondrial Membrane-protein Associated Neurodegeneration (MPAN) is a rare disease, caused by C19orf12 mutations and up to 29 different mutations have been described. We report a young woman presented with spastic paraparesis due to C19orf12 gene. MPAN presenting like Hereditary spastic paraplegia-43 is rare and the genetic mutation had been described only once in the literature. |
| Keywords: | Hereditary spastic paraplegia Mitochondrial membrane-protein associated neurodegeneration Misense mutation |
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