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[Inflammatory and other myopathies and skeletal muscle vasculitis: the role of muscle and nerve biopsy].

作者信息

Weis J, Nolte K

机构信息

Institut für Neuropathologie, Universitätsklinikum der RWTH, 52074 Aachen.

出版信息

Z Rheumatol. 2009 Aug;68(6):459-64. doi: 10.1007/s00393-009-0455-1.

DOI:10.1007/s00393-009-0455-1
PMID:19633862
Abstract

Muscle and nerve biopsies provide valuable information contributing to the diagnosis of diseases of the peripheral nervous system and skeletal muscle. The application of modern histological, immunohistochemical, electron microscopic and molecular methods establishes a definite diagnosis in many cases and narrows the spectrum of possible entities in most of the remaining cases. Inflammatory myopathies and neuropathies are distinguished from non-inflammatory muscular and peripheral nervous conditions. The latter include muscular dystrophies and congenital myopathies, hereditary neuropathies, metabolic diseases affecting skeletal muscle and peripheral nerves as well as degenerative myopathies and neuropathies including sporadic motor neuron diseases.

摘要

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本文引用的文献

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Am J Hum Genet. 2009 Apr;84(4):511-8. doi: 10.1016/j.ajhg.2009.03.006. Epub 2009 Apr 2.
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4
147th ENMC international workshop: guideline on processing and evaluation of sural nerve biopsies, 15-17 December 2006, Naarden, The Netherlands.
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5
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6
Granulomatous myositis: a clinical study of thirteen cases.肉芽肿性肌炎:13例临床研究
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7
Macrophage clustering as a diagnostic marker in sural nerve biopsies of patients with CIDP.巨噬细胞聚集作为慢性炎症性脱髓鞘性多发性神经病(CIDP)患者腓肠神经活检的诊断标志物。
Neurology. 2005 Dec 27;65(12):1924-9. doi: 10.1212/01.wnl.0000188879.19900.b7.
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Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.SIL1基因的突变会导致 Marinesco-Sjögren 综合征,这是一种伴有白内障和肌病的小脑共济失调。
Nat Genet. 2005 Dec;37(12):1312-4. doi: 10.1038/ng1678. Epub 2005 Nov 13.
9
Primary carnitine deficiency: adult onset lipid storage myopathy with a mild clinical course.原发性肉碱缺乏症:成人起病的脂质贮积性肌病,临床病程较轻。
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