Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes

American Journal of Medical Genetics

Volumn 132 A, Issue 3, 2005, Pages 296-301

  Kirschner, Janbernd ^a,f   Hausser, Ingrid ^b   Zou, Yaqun ^a   Schreiber, Gudrun ^c   Christen, Hans Jürgen ^d   Brown, Susan C ^e   Anton Lamprecht, Ingrun ^b   Muntoni, Francesco ^e   Hanefeld, Folker ^c   Bönnemann, Carsten G ^a,g  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF HEIDELBERG   (Germany)

^c UNIVERSITY OF GÖTTINGEN   (Germany)

^d Children's Hospital Auf der Bult   (Germany)

^e HAMMERSMITH HOSPITAL   (United Kingdom)

^f UNIVERSITY OF FREIBURG   (Germany)

^g CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

Collagen fibrils; Collagen VI; Composite fibrils; Connective tissue; Ehlers Danlos syndrome; Electron microscopy; Extracellular matrix; Hypermobility; Skin; Ullrich congenital muscular dystrophy

Indexed keywords

COLLAGEN FIBRIL; COLLAGEN TYPE 6;

ADOLESCENT; ALPHA CHAIN; CHILD; CLINICAL ARTICLE; CONFERENCE PAPER; CONNECTIVE TISSUE; EHLERS DANLOS SYNDROME; ELECTRON MICROSCOPY; EXTRACELLULAR MATRIX; GENE MUTATION; HUMAN; IMMUNOREACTIVITY; INTELLIGENCE; JOINT CONTRACTURE; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; PHENOTYPE; PRIORITY JOURNAL; SKIN BIOPSY;

ADOLESCENT; CHILD; CONNECTIVE TISSUE; DIAGNOSIS, DIFFERENTIAL; EHLERS-DANLOS SYNDROME; HUMANS; MICROSCOPY, ELECTRON; MUSCULAR DYSTROPHIES; SKIN;

EID: 19944427087     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30443     Document Type: Conference Paper

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