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  1. Epidemiology of dystrophinopathies in North-West Tuscany : a molecular genetics-based revisitation.

    Article - En anglais

    A molecular genetics-based epidemiological investigation was carried out in 1997 in the territory of North-West Tuscany, central Italy, to calculate incidence and prevalence rates of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD).

    Results were compared with a previous epidemiological study conducted in the same area in 1981, in the pre-dystrophin era.

    Routine adoption of methods of molecular diagnosis determined an increase in prevalence of BMD from 1.06 x 10-5 to 2.42 x 10-5 inhabitants, while cumulative incidence of DMD was markedly decreased from 23.12 x 10-5 during the period 1965-1976 to 10.71 x 10-5 male live births during the period 1977-1994.

    The combined reduction of DMD/BMD diagnostic error rate and familial recurrence could explain these results, providing the bases for a consistent redefinition of dystrophinopathy carrier frequency in the area considered.

    Mots-clés Pascal : Dystrophie musculaire progressive Becker, Dystrophie musculaire progressive Duchenne, Homme, Toscane, Italie, Europe, Epidémiologie, Système nerveux pathologie, Neuromusculaire pathologie, Maladie héréditaire

    Mots-clés Pascal anglais : Becker muscular dystrophy, Duchenne muscular dystrophy, Human, Tuscany, Italy, Europe, Epidemiology, Nervous system diseases, Neuromuscular diseases, Genetic disease

    Logo du centre Notice produite par :
    Inist-CNRS - Institut de l'Information Scientifique et Technique

    Cote : 99-0416033

    Code Inist : 002B17H. Création : 22/03/2000.