Avtor/Urednik		Logar, Nataša; Zidar, Janez; Peterlin, Borut
Naslov		Normal (CTG)n repeat expansion in a family with a clinical picture of myotonic dystrophy
Tip		članek
Vir		Acta Cardiomiol
Vol. in št.		Letnik 8
Leto izdaje		1996
Obseg		str. 99-101
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, ophthalmological and EMG examinations, no trinucleotide repeat expansion was found. Normal triplet expansion could 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 TRINUCLEOTIDE REPEATS PEDIGREE POLYMERASE CHAIN REACTION DNA BLOTTING, SOUTHERN ALLELES