British researchers in 1992 found the defective gene for Mytonic MD to be on chromosome 19. This gene fails to produce the protein kinase which is important in membrane function of muscle and other organs. People affected with HMSN I have been found to have an an extra section of chromosome 17 that creates defects in myelin formation. Being able to identify the genetic origin of these maladys represents progress and further understanding. Thanks to the tireless efforts of researchers this information is now available.
Much work remains to be done however.
Tests on mice have generated much information. Researchers have even isolated Duchenne MD in golden retriever dogs and created a special breed that allows continual study of therapeutic approaches and detailed information on inheritance patterns. Myoblast transplantation presents difficult obstacles that need to be overcome before it can be considered viable. First generation adneovirus vectors are being used in attempt to replace defective gene sequences. This mode presents many pitfalls as well.