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  • Direct molecular analysis of patients with myotonic dystrophy in Istria - Croatia
    Medica, Igor ...
    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.
    Vir: Proceedings (Str. 73-78)
    Vrsta gradiva - prispevek na konferenci
    Leto - 1996
    Jezik - angleški
    COBISS.SI-ID - 5087193

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