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

Neuromuscular Disorders

Volumn 17, Issue 8, 2007, Pages 587-596

  Petrini, Stefania ^a   D'Amico, Adele ^a   Sale, Patrizio ^b,c   Lucarini, Laura ^d   Sabatelli, Patrizia ^e   Tessa, Alessandra ^a   Giusti, Betti ^d   Verardo, Margherita ^a   Carrozzo, Rosalba ^a   Mattioli, Elisabetta ^e   Scarpelli, Marina ^f   Chu, Mon Li ^g   Pepe, Guglielmina ^d   Russo, Matteo Antonio ^b,c   Bertini, Enrico ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c IRCCS SAN RAFFAELE PISANA   (Italy)

^d UNIVERSITY OF FLORENCE   (Italy)

^e CNR   (Italy)

^f UNIVERSITÀ POLITECNICA DELLE MARCHE   (Italy)

^g THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

Collagen VI defects; Confocal imaging; Rotary shadowing electron microscopy; Ullrich congenital muscular dystrophy

Indexed keywords

COLLAGEN TYPE 6;

ARTICLE; BASEMENT MEMBRANE; CASE REPORT; CELL CULTURE; ELECTRON MICROSCOPY; FEMALE; FIBROBLAST; GENE MUTATION; GENETIC HETEROGENEITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMAGING; MUSCLE ATROPHY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; ULLRICH CONGENITAL MUSCULAR ATROPHY;

BIOPSY; CELLS, CULTURED; CHILD; COLLAGEN TYPE VI; FEMALE; FIBROBLASTS; GENETIC HETEROGENEITY; HOMOZYGOTE; HUMANS; MICROSCOPY, CONFOCAL; MICROSCOPY, ELECTRON; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; MYOFIBRILS; PHENOTYPE; SKIN;

EID: 34447291815     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2007.04.010     Document Type: Article

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