Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN)

Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN)

Abstract 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...

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Bibliographic Details
Main Authors: Allison Gregory, Mitesh Lotia, Suh Young Jeong, Rachel Fox, Dolly Zhen, Lynn Sanford, Jeff Hamada, Amir Jahic, Christian Beetz, Alison Freed, Manju A. Kurian, Thomas Cullup, Marlous C. M. van derWeijden, Vy Nguyen, Naly Setthavongsack, Daphne Garcia, Victoria Krajbich, Thao Pham, Randy Woltjer, Benjamin P. George, Kelly Q. Minks, Alexander R. Paciorkowski, Penelope Hogarth, Joseph Jankovic, Susan J. Hayflick
Format: Article
Language:English
Published: Wiley 2019-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
C19orf12
mitochondrial membrane protein‐associated neurodegeneration
MPAN
NBIA
neurodegeneration with brain iron accumulation
Online Access:https://doi.org/10.1002/mgg3.736

Internet

https://doi.org/10.1002/mgg3.736

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