Grimm T
Am J Med Genet. 1984 Aug;18(4):719-23. doi: 10.1002/ajmg.1320180418.
A frequent problem of genetic counseling in Becker muscular dystrophy (BMD) is the differential diagnosis between BMD and the autosomal recessive benign limb-girdle muscular dystrophy (LGMD) if the pedigree pattern is not typical of X-linkage. In this situation, the a priori probability that a woman and her husband may be heterozygotes for LGMD can be shown to be 80 mu/a (mu = mutation rate in BMD; a = incidence ratio between BMD and LGMD). In addition, the age-corrected serum creatine kinase (CK) values of all female relatives are also important for the risk calculation of a woman being carrier of BMD.
在贝克型肌营养不良症（BMD）的遗传咨询中，一个常见问题是，如果系谱模式不具有典型的X连锁特征，如何对BMD和常染色体隐性良性肢带型肌营养不良症（LGMD）进行鉴别诊断。在这种情况下，一名女性及其丈夫可能是LGMD杂合子的先验概率可表示为80μ/a（μ = BMD中的突变率；a = BMD与LGMD之间的发病率比）。此外，所有女性亲属经年龄校正后的血清肌酸激酶（CK）值对于计算一名女性成为BMD携带者的风险也很重要。
