Duchenne muscular dystrophy
- 1 January 1977
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 35 (2) , 225-231
- https://doi.org/10.1007/bf00393974
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.This publication has 15 references indexed in Scilit:
- DUCHENNE CARRIER DETECTIONThe Lancet, 1976
- Pseudohypertrophic Muscular Dystrophy of Childhood: An epidemiological survey in VictoriaAustralian and New Zealand Journal of Medicine, 1973
- The detection of carriers of X-linked muscular dystrophy genes: A review of some methods studied in Newcastle upon TyneJournal of the Neurological Sciences, 1971
- Genetic-epidemiological studies in progressive muscular dystrophy.Journal of Medical Genetics, 1971
- Mutation rate in Duchenne type of muscular dystrophy.Journal of Medical Genetics, 1970
- MUSCULAR DYSTROPHY IN CHILDHOOD. THE GENETIC ASPECT.Annals of Human Genetics, 1958
- MUSCULAR DYSTROPHY IN NORTHERN IRELANDAnnals of Human Genetics, 1958
- ON THE INHERITANCE OF MUSCULAR DYSTROPHYAnnals of Human Genetics, 1955
- ON THE CLASSIFICATION, NATURAL HISTORY AND TREATMENT OF THE MYOPATHIESBrain, 1954
- MUSCULAR DYSTROPHY IN NORTHERN IRELAND I. AN ACCOUNT OF THE CONDITION IN FIFTY-ONE FAMILIESAnnals of Eugenics, 1952