title: 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.
authors.affiliation: Dermatology Unit, Diagnostic Centre , Verviers , Belgium and.
authors.forename: Trinh
authors.initials: T
authors.lastname: Hermanns-Lê
authors.forename: Gérald E
authors.initials: GE
authors.lastname: Piérard
authors.forename: Claudine
authors.initials: C
authors.lastname: Piérard-Franchimont
authors.forename: Philippe
authors.initials: P
authors.lastname: Delvenne
mesh_terms: D000328:Adult; D024142:Collagen Type VI / Q000235:genetics*; D003286:Contracture / Q000235:genetics* / Q000473:pathology*; D005109:Extracellular Matrix / Q000648:ultrastructure; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D009154:Mutation; D012867:Skin / Q000648:ultrastructure*
chemical_list: C504344:COL6A2 protein, human; D024142:Collagen Type VI