Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis.

Petrini, Stefania; D'Amico, Adele; Sale, Patrizio; Lucarini, Laura; Sabatelli, Patrizia; Tessa, Alessandra; Giusti, Betti; Verardo, Margherita; Carrozzo, Rosalba; Mattioli, Elisabetta; Scarpelli, Marina; Chu, Mon-Li; Pepe, Guglielmina; Russo, Matteo Antonio; Bertini, Enrico

Petrini, Stefania; D'Amico, Adele; Sale, Patrizio; Lucarini, Laura; Sabatelli, Patrizia; Tessa, Alessandra; Giusti, Betti; Verardo, Margherita; Carrozzo, Rosalba; Mattioli, Elisabetta; Scarpelli, Marina; Chu, Mon-Li; Pepe, Guglielmina; Russo, Matteo Antonio; Bertini, Enrico.

Affiliation

Petrini S; Unit of Molecular Medicine, Department of Laboratory Medicine, Bambino Gesù Paediatric Hospital IRCCS, Piazza S. Onofrio 4, 00165 Rome, Italy. petrini.s@tiscalinet.it

Neuromuscul Disord ; 17(8): 587-96, 2007 Aug.

Article in En | MEDLINE | ID: mdl-17588753

Subject(s)

Collagen Type VI/genetics; Muscular Dystrophies/genetics; Muscular Dystrophies/pathology; Biopsy; Cells, Cultured; Child; Female; Fibroblasts/pathology; Genetic Heterogeneity; Homozygote; Humans; Microscopy, Confocal; Microscopy, Electron; Muscle, Skeletal/pathology; Myofibrils/pathology; Myofibrils/ultrastructure; Phenotype; Skin/pathology

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Collection: 01-internacional Database: MEDLINE Main subject: Collagen Type VI / Muscular Dystrophies Type of study: Prognostic_studies Limits: Child / Female / Humans Language: En Journal: Neuromuscul Disord Journal subject: NEUROLOGIA Year: 2007 Type: Article Affiliation country: Italy

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