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  • Normal (CTG)n repeat expansion in a family with a clinical picture of myotonic dystrophy
    Teran, Nataša ; Zidar, Janez ; Peterlin, Borut, 1963-
    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.
    Vir: Proceedings (Str. 67-72)
    Vrsta gradiva - prispevek na konferenci
    Leto - 1996
    Jezik - angleški
    COBISS.SI-ID - 5086937

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