GNN - Genome News Network  
  Home | About | Topics
Defect in desmin gene responsible for distinct muscle disorder

Muscle disorders, or myopathies, can result from an inherited genetic defect, or can be caused by external factors such as alcohol or steroid hormones. People who suffer from the disease experience moderate to severe weakness of the muscles and may become wheelchair-bound. The disorder develops at the mean age of 28 years. It is often accompanied by cardiomyopathy, a heart disorder that can cause heart failure and sudden death.

Scientists have now discovered a distinct type of myopathy named ‘desmin myopathy’. They found that it results from a genetic defect in a protein called desmin. According to the study at the Neuromuscular Diseases Section of the National Institute of Neurological Disorders and Stroke in Bethesda, Maryland, twelve of twenty-two patients had distinct mutations in the desmin gene, which was in six cases accompanied by cardiac-conduction defects.

The findings, published in the March 16 issue of The New England Journal of Medicine, indicate that desmin myopathy is a distinct subgroup of myopathy. Its diagnosis will help patients to recognize and anticipate the defects.

. . .

M. C. Dalakas. et al. Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. N Engl J Med 342, 770-780 (March 16, 2000).

Back to GNN Home Page