GENETIKAI TANACSADAS MYOTONIAS BETEGSEGEKBEN

Translated title of the contribution: Genetic counselling in cases with myotonic disorders

E. Eros, E. Czeizel

Research output: Contribution to journalShort survey

Abstract

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.

Original languageHungarian
Pages (from-to)102-107
Number of pages6
JournalLege Artis Medicinae
Volume6
Issue number2
Publication statusPublished - Mar 26 1996

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ASJC Scopus subject areas

  • Medicine(all)

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