Dermal Ultrastructure in Collagen VI Myopathy

Abstract

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.

• COL VI myopathy
• collagen
• nerve basement membrane
• ultrastructure
• vessel basement membrane