Dermal Ultrastructure in Collagen VI Myopathy

被引:4
|
作者
Hermanns-Le, Trinh [1 ,2 ]
Pierard, Gerald E. [2 ]
Pierard-Franchimont, Claudine [2 ]
Delvenne, Philippe [2 ]
机构
[1] Ctr Diagnost, Dermatol Unit, Verviers, Belgium
[2] Univ Liege, Dept Dermatopathol, Liege, Belgium
关键词
COL VI myopathy; collagen; nerve basement membrane; ultrastructure; vessel basement membrane; CONGENITAL MUSCULAR-DYSTROPHY; SKIN; MUSCLE;
D O I
10.3109/01913123.2013.829151
中图分类号
TH742 [显微镜];
学科分类号
摘要
The COL VI mutations are responsible for a spectrum of myopathies. The authors report cutaneous ultrastructural alterations in a patient with COL6A2 myopathy. The changes include variations in size of collagen fibrils, flower-like sections of collagen fibrils, as well as thickening of vessel and nerve basement membranes. Electron microscopy of a skin biopsy contributes to the diagnosis of COL VI myopathies.
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页码:164 / 166
页数:3
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