title: Epidemiology of dystrophinopathies in North-West Tuscany: a molecular genetics-based revisitation.
abstract: 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.
authors.affiliation: Department of Neurosciences, Neurological Clinics, University of Pisa, Italy. gsicila@neuro.med.unipi.it
authors.forename: G
authors.initials: G
authors.lastname: Siciliano
authors.forename: A
authors.initials: A
authors.lastname: Tessa
authors.forename: M
authors.initials: M
authors.lastname: Renna
authors.forename: M L
authors.initials: ML
authors.lastname: Manca
authors.forename: M
authors.initials: M
authors.lastname: Mancuso
authors.forename: L
authors.initials: L
authors.lastname: Murri
mesh_terms: D016189:Dystrophin / Q000235:genetics*; D006801:Humans; D015994:Incidence; D007558:Italy / Q000453:epidemiology; D008297:Male; D017720:Molecular Epidemiology; D009136:Muscular Dystrophies / Q000453:epidemiology / Q000235:genetics*
chemical_list: D016189:Dystrophin