Case Report: Identification of a De novo C19orf12 Variant in a Patient With Mitochondrial Membrane Protein–Associated Neurodegeneration

Autor: Yue Yang, Shijie Zhang, Wenming Yang, Taohua Wei, Wenjie Hao, Ting Cheng, Jiuxiang Wang, Wei Dong, Nannan Qian

Publikováno v: Frontiers in Genetics, Vol 13 (2022)

Background: Mitochondrial membrane protein–associated neurodegeneration (MPAN) mostly arises as an autosomal recessive disease and is caused by variants in the chromosome 19 open reading frame 12 (C19orf12) gene. However, a few C19orf12 monoallelic

Externí odkaz: https://doaj.org/article/e5497dd419774d49bcf7c2f6541d430b

Mitochondrial membrane protein–associated neurodegeneration: A case series of six children

Autor: Faruk Incecik, Ozlem M Herguner, Atil Bisgin

Publikováno v: Annals of Indian Academy of Neurology, Vol 23, Iss 6, Pp 802-804 (2020)

Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders with a progressive extrapyramidal syndrome and excessive iron deposition in the brain, particularly in the globus pallidus and substantia nigra. Mitochondrial membr

Externí odkaz: https://doaj.org/article/8dcba0312f454376912fcd9d442d49fd

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Distal muscle weakness and optic atrophy without central nervous system involvement in a patient with a homozygous missense mutation in the C19ORF12-gene

Autor: M.C. van Maarle, L. Reneman, M. de Visser, Debby M.E.I. Hellebrekers, Bregje Jaeger, Hubert J.M. Smeets, F.E. Bleeker, Camiel Verhamme, R. J. L. De Vries

Publikováno v: de Vries, R J, Jaeger, B, Hellebrekers, D M E I, Reneman, L, Verhamme, C, Smeets, H J M, van Maarle, M C, de Visser, M & Bleeker, F E 2021, ' Distal muscle weakness and optic atrophy without central nervous system involvement in a patient with a homozygous missense mutation in the C19ORF12-gene ', Clinical Neurology and Neurosurgery, vol. 206, 106637 . https://doi.org/10.1016/j.clineuro.2021.106637
Clinical neurology and neurosurgery, 206:106637. Elsevier
Clinical Neurology and Neurosurgery, 206:106637. Elsevier

Variants of the C19ORF12-gene have been described in patients with spastic paraplegia type 43 and in patients with mitochondrial membrane protein-associated neurodegeneration (MPAN), a subtype of neurodegeneration associated with brain iron accumulat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50e3478058a90304e2e46015fd310e66
https://research.vumc.nl/en/publications/2568c9b2-4d8a-47ea-8e15-c8a9ae57e4b1

Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN)

Autor: Susan J. Hayflick, Dolly Zhen, Benjamin P. George, Victoria Krajbich, Mitesh Lotia, Thomas Cullup, Christian Beetz, Penelope Hogarth, Kelly Q. Minks, Suh Young Jeong, Alison Freed, Vy Nguyen, Randy Woltjer, Joseph Jankovic, Marlous C M van der Weijden, Allison Gregory, Manju A. Kurian, Thao Pham, Alex R. Paciorkowski, Naly Setthavongsack, Daphne Garcia, Jeff Hamada, Rachel Fox, Amir Jahic, Lynn Sanford

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 7, Iss 7, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine
Molecular genetics & genomic medicine, 7(7):736. Wiley

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c3f09332052b70693c89833e95f62d4
https://doi.org/10.1002/mgg3.736