Summary
A study of a muscle biopsy has provided evidence of storage involvement of the skeletal muscle fibres in Fabry's disease. In the endothelial cells of the capillaries, the inclusions were more abundant and pleomorphic. Muscle satellite cells were spared. In the sensory nerve biopsy, the perineurial and endothelial cells contained lamellar bodies, but not the Schwann cells. There was a slight reduction of the number of the small myelinated fibres and of the unmyelinated fibres. An electron microscopic study of a muscle biopsy can be helpful in the diagnosis of the disease. The physiopathology of the pain attacks is still a matter for discussion.
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Tomé, F.M.S., Fardeau, M. & Lenoir, G. Ultrastructure of muscle and sensory nerve in Fabry's disease. Acta Neuropathol 38, 187–194 (1977). https://doi.org/10.1007/BF00688064
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DOI: https://doi.org/10.1007/BF00688064