Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN)

BACKGROUND: Mitochondrial membrane protein‐associated neurodegeneration (MPAN) is caused by pathogenic sequence variants in C19orf12. Autosomal recessive inheritance has been demonstrated. We present evidence of autosomal dominant MPAN and propose a mechanism to explain these cases. METHODS: Two lar...

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Detalles Bibliográficos
Autores principales: Gregory, Allison, Lotia, Mitesh, Jeong, Suh Young, Fox, Rachel, Zhen, Dolly, Sanford, Lynn, Hamada, Jeff, Jahic, Amir, Beetz, Christian, Freed, Alison, Kurian, Manju A., Cullup, Thomas, van der Weijden, Marlous C. M., Nguyen, Vy, Setthavongsack, Naly, Garcia, Daphne, Krajbich, Victoria, Pham, Thao, Woltjer, Randy, George, Benjamin P., Minks, Kelly Q., Paciorkowski, Alexander R., Hogarth, Penelope, Jankovic, Joseph, Hayflick, Susan J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625130/
https://www.ncbi.nlm.nih.gov/pubmed/31087512
http://dx.doi.org/10.1002/mgg3.736

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