Vimentin/desmin Immunoreactivity of Myofibres in Developmental Myopathies

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Abstract
Immunoreactivity for the intermediate filament proteins vimentin and desmin was studied in muscle biopsies of 33 children with neuromuscular diseases and in postmortem muscle of 15 fetuses and neonates at 8-42 weeks gestation. Fetal myotubes exhibited strong reactions for vimentin and desmin; reactivity was still present, though weaker, by 31 weeks and was no longer demonstrable at term. In X-linked myotubular myopathy (5 cases) myofibres showed strong reactivity for both vimentin and desmin; in myotonic dystrophy desmin but not vimentin had strong reactivity in myofibres of neonates and children. A similar but much weaker pattern of desmin reactivity was seen in nemaline rod disease and in congenital muscle fibre-type disproportion. The small myofibres in spinal muscular atrophy were reactive for both vimentin and desmin, as were regenerating myofibres in Duchenne muscular dystrophy and dermatomyositis. Acridine orange fluorochrome distinguished vimentin/desmin-reactive myofibres that were regenerating from those of developmental myopathies because the RNA fluorescence was strong in regenerating myofibres and in fetal myotubes, but was absent from myofibres in developmental disorders of muscle. A failure to regress of fetal cytoskeletal proteins may contribute to the apparent arrest in morphogenesis of myofibres. These stains are useful in studying the muscle biopsies of children with developmental myopathies because they demonstrate an aspect of muscle maturation not detected by standard histochemical methods.