Tubular aggregates in murine dystrophy heterozygotes.

Heterozygous dystrophic mice (strain 129 ReJ dy/+) were studied to determine the morphological changes that are characteristic of the heterozygote state. The morphology of the muscle in 35 heterozygotes (+/?) was compared with that of 35 homozygotes (dy/dy) and 20 normal controls (+/+). Muscle was examined with light microscopy, standard histochemical techniques, and electron microscopy. Few abnormalities were detected with light microscopy or with histochemistry. With electron microscopy, some slight nonspecific evidence of muscle damage in the form of focal myofibrillar degeneration was seen in all of the heterozygotes. The striking abnormality, however, was the presence of tubular aggregates in type 2 fibers in 60% of the heterozygotes. Tubular aggregates were not found in homozygous dystrophic mice or in normal controls. The significance of this finding is discussed and it is suggested that tubular aggregates may represent lateral sac dilatation and infolding.