A novel congenital myopathy with apoptotic changes

We report on a female child with congenital myopathy with delayed developme ntal milestones and mental retardation. The most striking pathological find ing was the presence of many condensed to fragmented myonuclei. DNA fragmen tation was confirmed by the TUNEL method and supported by the ultrastructur al characteristics of apoptotic nuclear changes. We also demonstrated immun ohistochemically the activation of caspase-3 and caspase-9. This appears to be the first reported case of congenital myopathy with apoptotic process.