Mevalonate kinase deficiency
Oct. 17, 2023
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Desmin in myotubular myopathy (photomicrograph)
In myotubular myopathy, desmin is upregulated in all myofibers; it should no longer be demonstrated as strong immunoreactivity after 38 weeks gestation. (x400) (Used with permission. Sarnat HB. Myotubular myopathy: arrest of morphogenesis of myofibers associated with persistence of fetal vimentin and desmin. Four cases compared with fetal and neonatal muscle. Can J Neurol Sci 1990;17:109-23.)