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同一患者中面肩肱型肌营养不良症与胸段髓外肿瘤的罕见关联：一例报告

Unusual association of FSHD and extramedullary thoracic tumour in the same patient: a case report.

作者信息

Kazakov V, Rudenko D, Schulev J, Pozdnyakov A

机构信息

Department of Neurology, Pavlov State Medical University, St. Petersburg, Russia.

出版信息

Acta Myol. 2009 Oct;28(2):76-9.

PMID:20128141
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2858950/
Abstract

In the recent literature the association of facioscapulohumeral-dystrophy (FSHD) with some hereditary neuromuscular diseases in the same patient has been reported. We present the first case in which the genetically confirmed familial FSHD is associated with an extramedullary thoracic tumour.

摘要

在最近的文献中，已有报道称面肩肱型肌营养不良症（FSHD）与同一患者的某些遗传性神经肌肉疾病有关。我们报告了首例经基因确诊的家族性FSHD与胸段髓外肿瘤相关的病例。

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Unusual association of FSHD and extramedullary thoracic tumour in the same patient: a case report.同一患者中面肩肱型肌营养不良症与胸段髓外肿瘤的罕见关联：一例报告
Acta Myol. 2009 Oct;28(2):76-9.
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Facioscapulohumeral dystrophy myoblasts efficiently repair moderate levels of oxidative DNA damage.面肩肱型肌营养不良成肌细胞能有效修复中等程度的氧化性DNA损伤。
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Cancer-related genes in the transcription signature of facioscapulohumeral dystrophy myoblasts and myotubes.成纤维细胞性肌营养不良症成肌细胞和肌管中转录特征中的癌症相关基因。
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本文引用的文献

1
Becker's muscular dystrophy aggravating facioscapulohumeral muscular dystrophy--double trouble as an explanation for an atypical phenotype.贝克尔肌营养不良症加重面肩肱型肌营养不良症——将双重问题作为非典型表型的一种解释
Neuromuscul Disord. 2008 Nov;18(11):881-5. doi: 10.1016/j.nmd.2008.06.387. Epub 2008 Aug 5.
2
Phenotype of combined Duchenne and facioscapulohumeral muscular dystrophy.
Neuromuscul Disord. 2008 Jul;18(7):579-82. doi: 10.1016/j.nmd.2008.03.011. Epub 2008 Jun 30.
3
Novel mitochondrial tRNA Leu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype.一名面肩肱型肌营养不良表型患者中新型线粒体tRNA亮氨酸（CUN）转换及D4Z4部分缺失
Neuromuscul Disord. 2008 Mar;18(3):204-9. doi: 10.1016/j.nmd.2007.12.005. Epub 2008 Mar 14.
4
Diagnostic challenges in facioscapulohumeral muscular dystrophy.面肩肱型肌营养不良症的诊断挑战
Neurology. 2006 Oct 24;67(8):1464-6. doi: 10.1212/01.wnl.0000240071.62540.6f.
5
Dysphagia in facioscapulohumeral muscular dystrophy.面肩肱型肌营养不良症中的吞咽困难
Neurology. 2006 Jun 27;66(12):1926-8. doi: 10.1212/01.wnl.0000219760.76441.f8.
6
An unusual family with Leber's hereditary optic neuropathy and facioscapulohumeral muscular dystrophy.
Eur J Neurol. 2005 May;12(5):388-91. doi: 10.1111/j.1468-1331.2004.01060.x.
7
Facioscapulohumeral muscular dystrophy and myasthenia gravis co-existing in the same patient: a case report.面肩肱型肌营养不良症与重症肌无力并存于同一患者：一例报告
J Neurol. 2002 Feb;249(2):219-20. doi: 10.1007/pl00007868.
8
The devastating combination of Charcot-Marie-Tooth disease and facioscapulohumeral muscular dystrophy.夏科-马里-图斯病与面肩肱型肌营养不良症的灾难性组合。
Muscle Nerve. 1998 Jun;21(6):788-91. doi: 10.1002/(sici)1097-4598(199806)21:6<788::aid-mus11>3.0.co;2-p.