由于LMNB1基因重复导致的成人发病常染色体显性白质营养不良。 - Suppr

Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication.

作者信息

Dos Santos Michael M, Grond-Ginsbach Caspar, Aksay Suna Su, Chen Bowang, Tchatchou Sandrine, Wolf Nicole I, van der Knaap Marjo S, Grau Armin J

出版信息

J Neurol. 2012 Mar;259(3):579-81. doi: 10.1007/s00415-011-6225-4. Epub 2011 Sep 10.

DOI:10.1007/s00415-011-6225-4

PMID:21909802

Abstract

摘要

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Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication.由于LMNB1基因重复导致的成人发病常染色体显性白质营养不良。

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A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations.一个常染色体显性遗传性脑白质营养不良家系与 5q23.2-q23.3 连锁，无 lamin B1 突变。

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Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant.成人发病常染色体显性遗传性脑白质营养不良无早期自主神经功能障碍与 lamin B1 重复相关：一种表型变异。

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Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms.基因组重复导致伴有自主神经症状的成人发病常染色体显性脑白质营养不良（ADLD）中核纤层蛋白 B1 的过度表达。

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Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.分析常染色体显性脑白质营养不良中的 LMNB1 重复序列，有助于深入了解重复机制和等位基因特异性表达。

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Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.罕见的致病性微缺失和串联重复是由局部基因组结构介导的微同源性并受其刺激产生的。

Hum Mol Genet. 2009 Oct 1;18(19):3579-93. doi: 10.1093/hmg/ddp306. Epub 2009 Jul 3.

A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy.一个与成人起病的白质脑病相关的新型Lamin B1重复家族。

J Neurol Neurosurg Psychiatry. 2009 Feb;80(2):237-40. doi: 10.1136/jnnp.2008.147330.

Lamin B1 duplications cause autosomal dominant leukodystrophy.核纤层蛋白B1重复导致常染色体显性白质营养不良。

Nat Genet. 2006 Oct;38(10):1114-23. doi: 10.1038/ng1872. Epub 2006 Sep 3.

Adult-onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23.成人起病的常染色体显性遗传性脑白质营养不良，自主神经症状局限于5号染色体q23区域的1.5兆碱基对

Am J Med Genet B Neuropsychiatr Genet. 2006 Sep 5;141B(6):608-14. doi: 10.1002/ajmg.b.30342.

MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms.伴有自主神经症状的成人发病常染色体显性遗传性脑白质营养不良的磁共振特征及神经病理学表现

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Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31.

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Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis.模拟慢性进行性多发性硬化症的遗传性成人起病脑白质营养不良

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Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication.

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