Postnatal centralization of muscle fibre nuclei in centronuclear myopathy
| Autor: | Peter F.M. van der Ven, Ad M. Stadhouders, Henk J. ter Laak, Frans C. S. Ramaekers, Paul H.K. Jap, Ria H.W. Wetzels, Rob C.A. Sengers |
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| Rok vydání: | 1991 |
| Předmět: |
Male
Pathology medicine.medical_specialty Generalized muscle weakness Fluorescent Antibody Technique Biology Type IV collagen Muscular Diseases Laminin Biopsy medicine Humans Centronuclear myopathy Child Genetics (clinical) Cell Nucleus Basement membrane Muscle biopsy medicine.diagnostic_test Muscles Anatomy medicine.disease Immunohistochemistry Microscopy Electron medicine.anatomical_structure Neurology Pediatrics Perinatology and Child Health biology.protein Female Desmin Neurology (clinical) |
| Zdroj: | Neuromuscular Disorders. 1:211-220 |
| ISSN: | 0960-8966 |
| DOI: | 10.1016/0960-8966(91)90027-p |
| Popis: | Postnatal centralization of muscle fibre nuclei, which were previously located subsarcolemmally, is described in a case of centronuclear myopathy (CNM) in a male patient with generalized muscle weakness since birth. A muscle biopsy was taken at the age of 11 months; no particular abnormalities were observed at this stage apart from an unusual variation in fibre size. A distinctly below average muscle fibre diameter, increased endomysial connective tissue, and features typical for CNM were found in a biopsy taken 9 yr later. Immunohistochemical studies using antibodies to desmin, vimentin, laminin and type IV collagen revealed altered staining patterns compared with normal fibres. The abnormalities in the patterns of cytoskeletal proteins point to a defective regulation of the composition and organization of the cytoskeletal network during development, paralleled by abnormalities in the extracellular matrix. |
| Databáze: | OpenAIRE |
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