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Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes
American journal of medical genetics, 2005-01, Vol.132A (3), p.296-301
Kirschner, Janbernd
Hausser, Ingrid
Zou, Yaqun
Schreiber, Gudrun
Christen, Hans-Jürgen
Brown, Susan C.
Anton-Lamprecht, Ingrun
Muntoni, Francesco
Hanefeld, Folker
Bönnemann, Carsten G.
2005
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Kirschner, Janbernd
Hausser, Ingrid
Zou, Yaqun
Schreiber, Gudrun
Christen, Hans-Jürgen
Brown, Susan C.
Anton-Lamprecht, Ingrun
Muntoni, Francesco
Hanefeld, Folker
Bönnemann, Carsten G.
Titel
Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes
Ist Teil von
American journal of medical genetics, 2005-01, Vol.132A (3), p.296-301
Ort / Verlag
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2005
Quelle
Wiley-Blackwell Journals
Beschreibungen/Notizen
Ullrich congenital muscular dystrophy (UCMD) is caused by mutations in the three genes coding for the alpha chains of collagen VI and characterized by generalized muscle weakness, striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints, and normal intellectual development. The diagnosis is supported by abnormal immunoreactivity for collagen VI on muscle biopsies. As patients with UCMD show clinical characteristics typical of classical disorders of connective tissue such as Ehlers–Danlos syndromes (EDS), we investigated the ultrastructure of skin biopsy samples from patients with UCMD (n=5). Electron microscopy of skin biopsies revealed ultrastructural abnormalities in all cases, including alterations of collagen fibril morphology (variation in size and composite fibers) and increase in ground substance, which resemble those seen in patients with EDS. Our findings suggest that there is a true connective tissue component as part of the phenotypic spectrum of UCMD and that there is considerable clinical as well as morphological overlap between UCMD and classic connective tissue disorders. © 2004 Wiley‐Liss, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4825, 0148-7299
eISSN: 1552-4833, 1096-8628
DOI: 10.1002/ajmg.a.30443
Titel-ID: cdi_proquest_miscellaneous_67399790
Format
–
Schlagworte
Adolescent
,
Biological and medical sciences
,
Child
,
collagen fibrils
,
collagen VI
,
composite fibrils
,
connective tissue
,
Connective Tissue - abnormalities
,
Diagnosis, Differential
,
Diseases of striated muscles. Neuromuscular diseases
,
Ehlers-Danlos syndrome
,
Ehlers-Danlos Syndrome - diagnosis
,
electron microscopy
,
extracellular matrix
,
General aspects. Genetic counseling
,
Humans
,
hypermobility
,
Medical genetics
,
Medical sciences
,
Microscopy, Electron
,
Muscular Dystrophies - congenital
,
Muscular Dystrophies - diagnosis
,
Neurology
,
Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis
,
skin
,
Skin - pathology
,
Skin - ultrastructure
,
Ullrich congenital muscular dystrophy
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