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Dermal ultrastructure in collagen VI myopathy.

Authors
Type
Published Article
Journal
Ultrastructural pathology
Publication Date
Volume
38
Issue
2
Pages
164–166
Identifiers
DOI: 10.3109/01913123.2013.829151
PMID: 24134684
Source
Medline
License
Unknown

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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