Duchenne muscular dystrophy - A population study

G. A. Danieli, M. L. Mostacciuolo, A. Bonfante, C. Angelini

Research output: Contribution to journalArticle

Abstract

By a general survey in the hospitals of northeast Italy, Duchenne cases have been located and identified over a 20-year period. In a more restricted area screening for Duchenne carriers has been carried out in affected families. This procedure made possible an exact estimate of the incidence rate, prevalence rate, and mutation rate in a large sample of population. Prevalence rate was found to be 34x10-6, incidence rate about 28x10-5, while mutation rate was found lower than 50x10-6 by the direct method. The discrepancy between the results obtained by the Haldane formula and those obtained by the direct method for the estimate of the mutation rate is discussed.

Original languageEnglish
Pages (from-to)225-231
Number of pages7
JournalHuman Genetics
Volume35
Issue number2
DOIs
Publication statusPublished - Jan 1977

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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