title: Reappraisal of the incidence rate of Duchenne and Becker muscular dystrophies on the basis of molecular diagnosis.
abstract: The incidence rates of Duchenne and Becker muscular dystrophies (X-linked recessive) in a given sample of the Italian population were recalculated using the results of DNA and dystrophin analysis. While the incidence rate of Duchenne muscular dystrophy remained unchanged, the new figure for the incidence of Becker muscular dystrophy (7.2 per 100,000 male live births) was much higher than previously reported, since molecular diagnosis revealed additional cryptic cases, but this incidence is still an underestimate.
authors.affiliation: Department of Biology, University of Padua, Italy.
authors.forename: M L
authors.initials: ML
authors.lastname: Mostacciuolo
authors.forename: M
authors.initials: M
authors.lastname: Miorin
authors.forename: E
authors.initials: E
authors.lastname: Pegoraro
authors.forename: M
authors.initials: M
authors.lastname: Fanin
authors.forename: F
authors.initials: F
authors.lastname: Schiavon
authors.forename: L
authors.initials: L
authors.lastname: Vitiello
authors.forename: F A
authors.initials: FA
authors.lastname: Saad
authors.forename: C
authors.initials: C
authors.lastname: Angelini
authors.forename: G A
authors.initials: GA
authors.lastname: Danieli
mesh_terms: D015153:Blotting, Western; D003402:Creatine Kinase / Q000235:genetics; D016189:Dystrophin / Q000235:genetics; D017353:Gene Deletion; D006580:Genetic Carrier Screening; D006801:Humans; D015994:Incidence; D007558:Italy / Q000453:epidemiology; D008297:Male; D015335:Molecular Probes; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D015995:Prevalence; D012189:Retrospective Studies; D014960:X Chromosome
chemical_list: D016189:Dystrophin; D015335:Molecular Probes; D003402:Creatine Kinase