title: Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy.
abstract: Congenital muscular dystrophy (CMD) is a heterogeneous disease with autosomic recessive transmission. In an epidemiological study in four provinces of Veneto (region of 2 586 830 inhabitants in north-east Italy), the recorded incidence rate for the period 1979-1993 was 4.65 x 10(-5); the prevalence rate in the year 1993 was 6.8x10(-6). The incidence and the prevalence rates that we have obtained during the course of our investigation represent the first estimates for CMD in Europe and show that this myopathy is among the most frequent neuromuscular diseases with autosomic recessive transmission.
authors.affiliation: Laboratorio di Genetica Umana, Dipartimento di Biologia, Università diPadova, Italy.
authors.forename: M L
authors.initials: ML
authors.lastname: Mostacciuolo
authors.forename: M
authors.initials: M
authors.lastname: Miorin
authors.forename: F
authors.initials: F
authors.lastname: Martinello
authors.forename: C
authors.initials: C
authors.lastname: Angelini
authors.forename: P
authors.initials: P
authors.lastname: Perini
authors.forename: C P
authors.initials: CP
authors.lastname: Trevisan
mesh_terms: D002648:Child; D002675:Child, Preschool; D004812:Epidemiologic Methods; D005260:Female; D006801:Humans; D015994:Incidence; D007223:Infant; D007558:Italy / Q000453:epidemiology; D008297:Male; D009136:Muscular Dystrophies / Q000453:epidemiology* / Q000235:genetics*; D015995:Prevalence