Avtor/Urednik		Logar, N; Zidar, J; Peterlin, B
Naslov		Normal (CTG)n repeat expansion in a family with a clinical picture of myotonic dystrophy
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. 67-72
Jezik		eng
Abstrakt		The amplification of an unstable trinucleotide (CTG)n repeat within the myotonic dystrophy gene is found in approximately 98 of patients with myotonic dystrophy (DM). In 2 patients from one family with clinical diagnosis of DM based on clinical, opthalmological and EMG examinations, no trinucleotide repeat expension was found. Normal triplet expansion coulnd be explained by clinical, allelic (e.g. deletions) and nonallelic heterogeneity, or by mitotic mutation in early embryonic development. Further molecular genetic analysis of this family is underway to explain the observed phenomenon.
Deskriptorji		MYOTONIA ATROPHICA DNA MUTATIONAL ANALYSIS ADULT MIDDLE AGE