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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Bibliografski detalji
Izdano u:Mol Genet Genomic Med
Glavni autori: 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.
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2019
Teme:
Original Articles
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6625130/
https://ncbi.nlm.nih.gov/pubmed/31087512
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.736
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