Article
Dermal ultrastructure in collagen VI myopathy.
Ultrastructural pathology - 1 Apr 2014
Hermanns-Lê Trinh, Piérard Gérald E, Piérard-Franchimont Claudine, Delvenne Philippe
Abstract excerpt
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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