mutations and central demyelination: Evidence from electrophysiologic phenotyping in female manifesting carriers.
作者信息
Keogh Michael J, Jaiser Stephan R, Steele Hannah E, Horvath Rita, Chinnery Patrick F, Baker Mark R
机构信息
Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Centre for Life (MJK, HES, RH, PFC), and Institute of Neuroscience (SRJ, MRB), Newcastle University; Departments of Neurology (MJK, SRJ, HES, RH, PFC, MRB) and Neurophysiology (SRJ, MRB), Royal Victoria Infirmary, Newcastle Upon Tyne; and Department of Clinical Neurosciences (MJK, PFC), University Neurology Unit, Cambridge Biomedical Campus, UK.
出版信息
Neurol Clin Pract. 2017 Oct;7(5):451-454. doi: 10.1212/CPJ.0000000000000346.
Abstract
摘要
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Neurol Clin Pract. 2017 Oct;7(5):451-454. doi: 10.1212/CPJ.0000000000000346.
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本文引用的文献
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Partial PLP1 deletion causing X-linked dominant spastic paraplegia type 2.部分 PLP1 缺失导致 X 连锁显性痉挛性截瘫 2 型。
Pediatr Neurol. 2013 Dec;49(6):477-81. doi: 10.1016/j.pediatrneurol.2013.07.012. Epub 2013 Oct 1.
2
Subclinical multisystem neurologic disease in "pure" OPA1 autosomal dominant optic atrophy.“纯合型”OPA1常染色体显性遗传性视神经萎缩中的亚临床多系统神经疾病
Neurology. 2011 Sep 27;77(13):1309-12. doi: 10.1212/WNL.0b013e318230a15a. Epub 2011 Sep 14.
3
Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22.与 CNV 大小相关的疾病外显证据：Pelizaeus-Merzbacher 病和表现型携带者的 Xq22 家族性 11 Mb 重复。
Clin Genet. 2012 Jun;81(6):532-41. doi: 10.1111/j.1399-0004.2011.01716.x. Epub 2011 Jun 20.
4
Diagnostic criteria for multiple sclerosis: 2010 revisions to the McDonald criteria.多发性硬化症的诊断标准：2010 年麦克唐纳标准修订版。
Ann Neurol. 2011 Feb;69(2):292-302. doi: 10.1002/ana.22366.
5
Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation.原发性进行性多发性硬化症作为PLP1基因突变的一种表型。
Ann Neurol. 2005 Sep;58(3):470-3. doi: 10.1002/ana.20601.
6
X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations.佩利措伊斯-梅茨巴赫病携带者的X染色体失活表型：重复携带者中呈偏态，点突变携带者中呈随机状态。
Eur J Hum Genet. 2000 Jun;8(6):449-54. doi: 10.1038/sj.ejhg.5200480.
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