Dermal ultrastructure in collagen VI myopathy.

[en] 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.

Disciplines :

Dermatology

Author, co-author :

Hermanns-Lê, Trinh ; Université de Liège - ULiège > Département des sciences cliniques > Dermatopathologie

PIERARD, Gérald ; Centre Hospitalier Universitaire de Liège - CHU > Dermatopathologie

Franchimont, Claudine ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Département des sciences biomédicales et précliniques

Delvenne, Philippe ; Université de Liège - ULiège > Département des sciences biomédicales et précliniques > Anatomie et cytologie pathologiques

Language :

English

Title :

Dermal ultrastructure in collagen VI myopathy.

Publication date :

15 October 2013

Journal title :

Ultrastructural Pathology

ISSN :

0191-3123

eISSN :

1521-0758

Publisher :

Taylor & Francis, Philadelphia, United States - Pennsylvania

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 11 December 2013

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Bibliography

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