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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Morphological differences between the atrophied small muscle fibres in amyotrophic lateral sclerosis and Werdnig-Hoffmann disease.

Muscle biopsies from 5 cases of Werdnig-Hoffmann disease and 4 cases of ALS were investigated by histology and electronmicroscopy. The differences in morphology found in the atrophic muscle fibers in ALS and in W.H. disease consisted mainly in the shape and structure of their cells and the number of the nuclei. Atrophic muscle fibres irregular in shape and size with degenerative changes and accumulated nuclei observed in ALS were markedly different from the picture of the fibres in W.H. disease. The presence of small muscle cells uniform diameter with well preserved architecture and numerous myotube-like cells seem to indicate a foetal defect in children with W.H. disease.[1]


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