title: Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis.
abstract: Ullrich congenital muscular dystrophy (UCMD) is clinically characterized by muscle weakness, proximal contractures and distal hyperlaxity and morphologically branded by absence or reduction of collagen VI (ColVI), in muscle and in cultured fibroblasts. The ColVI defect is generally related to COL6 genes mutations, however UCDM patients without COL6 mutations have been recently reported, suggesting genetic heterogeneity. We report comparative morphological findings between a UCMD patient harboring a homozygous COL6A2 mutation and a patient with a typical UCMD phenotype in which mutations in COL6 genes were excluded. The patient with no mutations in COL6 genes exhibited a partial ColVI defect, which was only detected close to the basal membrane of myofibers. We describe how confocal microscopy and rotary-shadowing electron microscopy may be useful to identify a secondary ColVI defect.
authors.affiliation: Unit of Molecular Medicine, Department of Laboratory Medicine, Bambino Gesù Paediatric Hospital IRCCS, Piazza S. Onofrio 4, 00165 Rome, Italy. petrini.s@tiscalinet.it
authors.forename: Stefania
authors.initials: S
authors.lastname: Petrini
authors.forename: Adele
authors.initials: A
authors.lastname: D'Amico
authors.forename: Patrizio
authors.initials: P
authors.lastname: Sale
authors.forename: Laura
authors.initials: L
authors.lastname: Lucarini
authors.forename: Patrizia
authors.initials: P
authors.lastname: Sabatelli
authors.forename: Alessandra
authors.initials: A
authors.lastname: Tessa
authors.forename: Betti
authors.initials: B
authors.lastname: Giusti
authors.forename: Margherita
authors.initials: M
authors.lastname: Verardo
authors.forename: Rosalba
authors.initials: R
authors.lastname: Carrozzo
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Mattioli
authors.forename: Marina
authors.initials: M
authors.lastname: Scarpelli
authors.forename: Mon-Li
authors.initials: ML
authors.lastname: Chu
authors.forename: Guglielmina
authors.initials: G
authors.lastname: Pepe
authors.forename: Matteo Antonio
authors.initials: MA
authors.lastname: Russo
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
mesh_terms: D001706:Biopsy; D002478:Cells, Cultured; D002648:Child; D024142:Collagen Type VI / Q000235:genetics*; D005260:Female; D005347:Fibroblasts / Q000473:pathology; D018740:Genetic Heterogeneity; D006720:Homozygote; D006801:Humans; D018613:Microscopy, Confocal; D008854:Microscopy, Electron; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology*; D009210:Myofibrils / Q000473:pathology / Q000648:ultrastructure; D010641:Phenotype; D012867:Skin / Q000473:pathology
chemical_list: D024142:Collagen Type VI