Type III collagen deficient EDS IV producing muscular hypotonia with abnormal muscle fibroblasts
| Autor: | Glinka Z, Anna Fidziańska, Pope Fm, A Kamińska |
|---|---|
| Rok vydání: | 1991 |
| Předmět: |
Male
medicine.medical_specialty Muscle Hypotonia Collagen Type III Internal medicine medicine Humans Fibroblast Child Skin Muscle biopsy medicine.diagnostic_test Muscular hypotonia business.industry Endoplasmic reticulum Muscles General Medicine Fibroblasts medicine.disease Endocrinology medicine.anatomical_structure Cytoplasm Ehlers–Danlos syndrome Pediatrics Perinatology and Child Health Ehlers-Danlos Syndrome Female Neurology (clinical) Collagen business |
| Zdroj: | Neuropediatrics. 22(4) |
| ISSN: | 0174-304X |
| Popis: | Muscle biopsy and fibroblast culture of a floppy child with Ehlers-Danlos syndrome type IV were studied. Biochemical analysis of the tissue showed drastically reduced amount of collagen type III. Electron microscopic examination of muscle as well as of cultured fibroblasts showed grossly dilated and dominated the cytoplasm endoplasmic reticulum. Dilatation may result from storage of an abnormal collagen type III molecule. Our observations indicate that type III collagen deficiency may be present clinically as a congenital muscle hypotonia. Specific ultrastructural abnormalities of fibroblasts found in muscle biopsy can enable the proper diagnosis. |
| Databáze: | OpenAIRE |
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