Abundant minute myotubes in a patient who later developed centronuclear myopathy
| Autor: | U.-P. Ketelsen, Mechthild Stötter, Antje Bornemann, Sven Laule, Richard Meyermann, Lars Wöckel |
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| Rok vydání: | 1998 |
| Předmět: |
Male
Pathology medicine.medical_specialty Adolescent Muscle Fibers Skeletal Biology Microtubules Pathology and Forensic Medicine Cellular and Molecular Neuroscience Fatal Outcome medicine Humans Myotubular Myopathy Centronuclear myopathy Muscle Skeletal Cell Nucleus Muscle biopsy medicine.diagnostic_test Histocytochemistry Myogenesis Neuromuscular Diseases Anatomy medicine.disease Congenital myopathy Cell nucleus medicine.anatomical_structure Ultrastructure Immunohistochemistry Neurology (clinical) |
| Zdroj: | Acta Neuropathologica. 95:547-551 |
| ISSN: | 1432-0533 0001-6322 |
| DOI: | 10.1007/s004010050836 |
| Popis: | Centronuclear myopathy (CNM) is a congenital myopathy which manifests itself as a severe neonatal (also termed myotubular myopathy), early-onset, or adult form. The histological pattern of each is marked by a considerable number of nuclei of muscle fibers being internally placed. Owing to their remote resemblance to myotubes, and their expression of developmentally regulated proteins, most authors now favor the concept that myogenesis is arrested or delayed in this disease. We here present two muscle biopsy specimens of a patient with early-onset CNM, taken at the age of 5 months and 14 years, respectively. The first biopsy sample contained internally placed nuclei in 7% of the muscle fibers, abundant minute myotubes, and hypertrophic muscle fibers. The second biopsy sample showed internally placed nuclei in 40% of the muscle fibers, and hypotrophic fibers. We suggest that the histological findings in early-onset CNM are the result of a complex dynamic process, which includes a delay in maturation. |
| Databáze: | OpenAIRE |
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