The types of myotonic disorders and their clinical signs are interpreted with cases from Genetic Counselling Clinic. The authors summarise the basic principles of genetic counselling emphasizing the risk of the mother's disease to the offspring's concerning the perinatal mortality and the severe early onset fetal type of the disease. Molecular genetic background of dystrophia myotonica is a new achievement, thus prenatal diagnosis is already available.
|Translated title of the contribution||Genetic counselling in cases with myotonic disorders|
|Number of pages||6|
|Journal||Lege Artis Medicinae|
|Publication status||Published - Mar 26 1996|
ASJC Scopus subject areas