Population data on benign and severe forms of X-linked muscular dystrophy

Hum Genet. 1987 Mar;75(3):217-20. doi: 10.1007/BF00281062.

Abstract

Epidemiological data on Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD) from a large sample of the Italian population are reported. For BMD the incidence rate was found to be 5.5 X 10(-5) live-born males (lbm) and the prevalence rate, 13.1 X 10(-6); the mutation rate was estimated to be about 6.0 X 10(-6). For DMD the incidence and prevalence rates were found to be respectively 26 X 10(-5) lbm and 31.6 X 10(-6). The DMD mutation rate obtained by the Haldane formula was 86.6 X 10(-6) and by the semi-direct method, 65.6 X 10(-6). The results are discussed in the light of possible allelism of BMD and DMD.

MeSH terms

  • Adult
  • Child
  • Child, Preschool
  • Female
  • Gene Frequency
  • Genetic Linkage*
  • Heterozygote
  • Humans
  • Infant
  • Italy
  • Male
  • Muscular Dystrophies / epidemiology
  • Muscular Dystrophies / genetics*
  • Mutation
  • Pedigree
  • X Chromosome*

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