Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN)

机译：常染色体显性线粒体膜蛋白相关性神经变性（MPAN）

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BackgroundMitochondrial 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.

机译：背景线粒体膜蛋白相关神经变性（MPAN）是由C19orf12中的致病性序列变异引起的。常染色体隐性遗传已得到证明。我们提供了常染色体显性MPAN的证据，并提出了解释这些病例的机制。

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期刊名称 Molecular Genetics Genomic Medicine
作者
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 der Weijden; 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;
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年(卷),期 2019(7),7
年度 2019
页码 e00736
总页数 11
原文格式 PDF
正文语种
中图分类遗传学;
关键词
C19orf12 mitochondrial membrane protein‐associated neurodegeneration MPAN NBIA neurodegeneration with brain iron accumulation;

机译：C19orf12;线粒体膜蛋白相关的神经变性;MPAN;NBIA;具有脑铁积聚的神经变性;

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专利

1. Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN) [J] . Allison Gregory, Mitesh Lotia, Suh Young Jeong, Molecular Genetics & Genomic Medicine . 2019,第7期

机译：常染色体显性线粒体膜蛋白相关神经变性（MPAN）
2. Mitochondrial Membrane Protein Associated Neurodegeneration (MPAN) with a Novel C19orf12 Mutation in the First Decade of Life [J] . Gowda Vykuntaraju K., Patil Arundhati, Srinivasan Varunvenkat M., Indian journal of pediatrics . 2019,第8期

机译：线粒体膜蛋白相关的神经变性（MPAN）在生命的第一个十年内具有新的C19ORF12突变
3. A Novel Deletion Mutation of Exon 2 of the C19orf12 Gene in an Omani Family with Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) [J] . Nabil Al Macki, Ismail Al Rashdi Oman Medical Journal . 2017,第1期

机译：阿曼家族中与线粒体膜蛋白相关的神经变性（MPAN）的C19orf12基因外显子2的新型缺失突变。
4. Mining Human Mitochondrial and Mitochondrial Associated Proteins based on SVM and Neural Network [C] . Guangrong Li, Zhong Huang, Jiali Xia, International Conference on Granular Computing . 2008

机译：基于SVM和神经网络的挖掘人体线粒体和线粒体相关蛋白
5. Characterization of the targeting and membrane insertion of mitochondrial tombusvirus replication proteins and tail-anchored proteins . [D] . Hwang, Yeen Ting. 2010

机译：线粒体肺炎病毒复制蛋白和尾锚蛋白的靶向和膜插入特性。
6. A Novel Deletion Mutation of Exon 2 of the C19orf12 Gene in an Omani Family with Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) [O] . Nabil Al Macki, Ismail Al Rashdi 2017

机译：与线粒体膜蛋白相关的神经变性（MPAN）的阿曼家庭中的C19orf12基因外显子2的新型删除突变。
7. Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform [O] . Olivia J. Rickman, Claire G. Salter, Adam C. Gunning, 2021

机译：特定C190RF12同种型内的显性线粒体膜蛋白相关神经变性（MPAN）变体簇

Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN)

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