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A Spinal Muscular Atrophy Family with Intrafamilial Phenotype Differences Despite the Same Copy-Number Variation in .

作者信息

Park Jin Mo, Nishio Hisahide, Shin Jin Hong, Park Jin Sung

机构信息

Department of Neurology, Dongguk University College of Medicine, Gyeongju, Korea.

Department of Community Medicine and Social Healthcare Science, Kobe Univiersity Graduate School of Medicine, Kobe, Japan.

出版信息

J Clin Neurol. 2019 Jul;15(3):395-397. doi: 10.3988/jcn.2019.15.3.395.

DOI:10.3988/jcn.2019.15.3.395
PMID:31286713
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6620452/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/010b/6620452/896aaf9f6ed7/jcn-15-395-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/010b/6620452/896aaf9f6ed7/jcn-15-395-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/010b/6620452/896aaf9f6ed7/jcn-15-395-g001.jpg

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本文引用的文献

1
A 9-year follow-up study of the natural progression of upper limb performance in myotonic dystrophy type 1: A similar decline for phenotypes but not for gender.1型强直性肌营养不良症上肢功能自然进展的9年随访研究：不同表型的下降情况相似，但与性别无关。
Neuromuscul Disord. 2017 Jul;27(7):673-682. doi: 10.1016/j.nmd.2017.04.007. Epub 2017 May 2.
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Muscle magnetic resonance imaging in spinal muscular atrophy type 3: Selective and progressive involvement.3型脊髓性肌萎缩症的肌肉磁共振成像：选择性和进行性受累
Muscle Nerve. 2017 May;55(5):651-656. doi: 10.1002/mus.25385. Epub 2017 Jan 5.
3
Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease.
脊髓性肌萎缩症的表型修饰因子：SMN2基因拷贝数、NAIP基因缺失以及可能的性别会影响疾病进程。
Acta Biochim Pol. 2009;56(1):103-8. Epub 2009 Mar 14.
4
SMN2 and NAIP gene dosages in Vietnamese patients with spinal muscular atrophy.越南脊髓性肌萎缩症患者的SMN2和NAIP基因剂量
Pediatr Int. 2008 Jun;50(3):346-51. doi: 10.1111/j.1442-200X.2008.02590.x.
5
SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings.生存运动神经元2（SMN2）基因拷贝数可预测急性或慢性脊髓性肌萎缩症，但无法解释同胞间的家族内变异性。
J Neurol. 2006 Jan;253(1):21-5. doi: 10.1007/s00415-005-0912-y. Epub 2005 Jun 28.
6
Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.基于实时荧光定量PCR的SMN1和SMN2定量分析：脊髓性肌萎缩症携带者的快速、高度可靠检测及严重程度预测
Am J Hum Genet. 2002 Feb;70(2):358-68. doi: 10.1086/338627. Epub 2001 Dec 21.
7
Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling.存活运动神经元拷贝数的定量分析：脊髓性肌萎缩症患者中微小SMN1突变的鉴定、基因型-表型相关性及对遗传咨询的意义。
Am J Hum Genet. 1999 May;64(5):1340-56. doi: 10.1086/302369.
8
De novo and inherited deletions of the 5q13 region in spinal muscular atrophies.脊髓性肌萎缩症中5q13区域的新发和遗传性缺失。
Science. 1994 Jun 3;264(5164):1474-7. doi: 10.1126/science.7910982.