Classic Pelizaeus-Merzbacher disease in a girl with an unbalanced chromosomal translocation and functional duplication of PLP1
Author:
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/mds.22734/fullpdf
Reference8 articles.
1. Garbern J Krajewski K Hobson GM 2006 http://www.ncbi.nlm.nih.gov/bookshelf/bc.fcgi?book-gene+part-pmd
2. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2;Inoue;Neurogenetics,2005
3. Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease;Hurst;Genet Med,2006
4. X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations;Woodward;Eur J Hum Genet,2000
5. Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement;Inoue;Ann Neurol,2001
Cited by 4 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1;Journal of Human Genetics;2019-04-19
2. Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease;BMC Medical Genetics;2015-09-02
3. PLP1duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus-Merzbacher disease in a girl;Clinical Genetics;2012-03-16
4. Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22;Clinical Genetics;2011-06-20
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