Naslov
Miotonička distrofija (Mb Steinert): fertilnost, anticipacija, transmisija
(Myotonic disease (Steinert's disease): fertility, anticipation, transmission)

Autori
Ristić, Smiljana ; Hadžiselimović, Rifat ; Marković, Dubravko ; Janko, Dolores

Izvornik
Neurologia Croatica (0353-8842) 42 (1993), 1; 39-47

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, ostalo

Ključne riječi
Steinertova bolest ; fertilitet ; prijenos
(Steinert's disease ; fertility ; transmission)

Sažetak
Sine reduced fertility is frequently found in patients with myotonic dystrophy (Mb Steinert) (MD), fertility was studied in patients and their sibs from eight families from Croatian region of Istria. No reduced fertility was observed in authors' sample (w=0.52) as compared to the control group (w=0.63). Greatly reduced fertility was only found in a group of patients with early onset of the disease, indicating the observed anticipation to be inherited to the transmission of myotonic dystrophy. Maternal transmission of MD was found to be related to a more severe form od the disease, especially in patient's sons. The latest onset of the disease with a better clinical status was recorded in the sons of affected fathers. These facts suggested a question of the possible localisation of the regulation genes on the X and/or Y chromosome, which obviously requieres further studies.

Izvorni jezik
Engleski

Znanstvena područja
Biologija

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