Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes
| Autor: | Carsten G. Bönnemann, Hans-Jürgen Christen, Susan C. Brown, Yaqun Zou, Ingrid Hausser, Folker Hanefeld, Francesco Muntoni, Janbernd Kirschner, Ingrun Anton-Lamprecht, Gudrun Schreiber |
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| Rok vydání: | 2004 |
| Předmět: |
0303 health sciences
Systemic disease medicine.diagnostic_test Ullrich congenital muscular dystrophy business.industry Ground substance Connective tissue Anatomy medicine.disease 3. Good health 03 medical and health sciences 0302 clinical medicine medicine.anatomical_structure Ehlers–Danlos syndrome Collagen VI Skin biopsy Genetics medicine business 030217 neurology & neurosurgery Genetics (clinical) 030304 developmental biology Muscle contracture |
| Zdroj: | American Journal of Medical Genetics Part A. :296-301 |
| ISSN: | 1552-4825 |
| DOI: | 10.1002/ajmg.a.30443 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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