Avtor/Urednik		Medica, I; Logar, N; Marković, D; Peterlin, B
Naslov		Direct molecular analysis of patients with myotonic dystrophy in Istria - Croatia
Tip		članek
Vir		In: Zidar J, editor. Proceedings of the Symposium on update in neurogenetics with 12th dr. Janez Faganel memorial lecture; 1996 Oct 4-5; Ljubljana. Ljubljana: University institute of clinical neurophysiology,
Leto izdaje		1996
Obseg		str. 73-8
Jezik		eng
Abstrakt		The analysis of unstable CTG repeat, as the cause of myotonic dystrophy (DM), provides a direct diagnostic test for DM patients. The direct molecular analysis was performed in 33 DM patients from 12 families in Croatian region Istria using Southern blot and polymerase chain reaction (PCR). In 27 patients the mutation analysis confirmed the diagnosis. In 6 patients no CTG expansions were found. The size of expansions ranged from 0.6 kb and 2.4 kb for patients with classical DM, and from 2.1 kb and 4.1 kb for the early onset form. Patients with congenital DM had the expansion over 4.6 kb. The patient with minimal DM had CTG expansion 0.3 kb. The mutation analysis of DM patients is the method of choice in the diagnosis of DM and it has great implications in genetic counselling.
Deskriptorji		MYOTONIA ATROPHICA DNA MUTATIONAL ANALYSIS CHILD, PRESCHOOL ADOLESCENCE ADULT MIDDLE AGE AGED CROATIA