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January 1988

Mutations in Duchenne Muscular Dystrophy

Arch Neurol. 1988;45(1):87. doi:10.1001/archneur.1988.00520250093028

The nature of the mutations in Duchenne muscular dystrophy (DMD) has implications not only for genetic science but for prevention and patient care. Everyone agrees on this. The crux of the controversy is whether the mutation rate is equal among males and females. If it is, then there is a two-thirds chance that the mother is a genetic carrier, as Dr Bobrow and colleagues believe. If it is not, then "virtually all mothers of affected DMD males are carriers" as Dr Roses maintains.

The ascertainment of the proportion of children affected by DMD born subsequent to the first in a family is open to bias, and the problem with genetic probes is that they cover only a small part of the DMD locus1 as Bobrow and colleagues emphasize. Neither approach has yielded data statistically robust enough to compel definite conclusions.

There was a time when Dr Roses views made

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