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Case Report

Dermal Ultrastructure in Collagen VI Myopathy

, MD, PhD, , MD, PhD, , MD, PhD & , MD, PhD
Pages 164-166 | Received 26 Jun 2013, Accepted 22 Jul 2013, Published online: 17 Oct 2013
 

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.

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