Mostacciuolo M L, Lombardi A, Cambissa V, Danieli G A, Angelini C
Hum Genet. 1987 Mar;75(3):217-20. doi: 10.1007/BF00281062.
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.
报告了来自意大利大量人群样本的贝克型肌营养不良症(BMD)和杜氏肌营养不良症(DMD)的流行病学数据。对于BMD,发病率为5.5×10^(-5) 活产男性(lbm),患病率为13.1×10^(-6);突变率估计约为6.0×10^(-6)。对于DMD,发病率和患病率分别为26×10^(-5) lbm和31.6×10^(-6)。通过霍尔丹公式得到的DMD突变率为86.6×10^(-6),通过半直接法得到的突变率为65.6×10^(-6)。根据BMD和DMD可能的等位基因现象对结果进行了讨论。