Population data on benign and severe forms of X-linked muscular dystrophy |
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Authors: | M. L. Mostacciuolo A. Lombardi V. Cambissa G. A. Danieli C. Angelini |
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Affiliation: | (1) Department of Biology, Section of Genetics, University of Padua, via Trieste 75, I-35121 Padua, Italy;(2) Department of Neurology, University of Padua, Regional Center for Neuromuscular Disorders, via Giustiniani 6, I-35128 Padua, Italy |
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Abstract: | Summary 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 5.5x10-5 liveborn males (lbm) and the prevalence rate, 13.1x10-6; the mutation rate was estimated to be about 6.0x10-6. For DMD the incidence and prevalence rates were found to be respectively 26x10-5 lbm and 31.6x10-6. The DMD mutation rate obtained by the Haldane formula was 86.6x10-6 and by the semi-direct method, 65.6x10-6. The results are discussed in the light of possible allelism of BMD and DMD. |
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