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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Автори:	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
Формат:	Artigo
Мова:	Inglês
Опубліковано:	Wiley 2019-07-01
Серія:	Molecular Genetics & Genomic Medicine
Предмети:	C19orf12 mitochondrial membrane protein‐associated neurodegeneration MPAN NBIA neurodegeneration with brain iron accumulation
Онлайн доступ:	https://doi.org/10.1002/mgg3.736
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Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN)

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