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.