Duchenne muscular dystrophy. Frequency of sporadic cases

A segregation analysis on 135 Duchenne families from Venetia (Italy) suggests that the proportion of sporadic cases might be less than expected. Support for this view is also given by an analysis of a pooled sample including 284 additional sibships from comparable studies published previously. Several hypotheses were tested: the maximum likelihood was obtained for a segregation frequency p = 0.46 and for a proportion of sporadic cases x = 0.227 +/- 0.048.