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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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