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January 1988

The Parental Origin of Mutations Causing Duchenne Muscular Dystrophy

Author Affiliations

From the Paediatric Research Unit, Prince Philip Research Laboratories, Guy's Tower, Guy's Hospital, London Bridge, London (Dr Bobrow and Ms Walker), and Green College at the Radcliffe Observatory, Oxford, England (Dr Walton).

Arch Neurol. 1988;45(1):85-87. doi:10.1001/archneur.1988.00520250091027

Allen Roses, MD, draws attention to the considerable clinical importance of defining the relative mutation rates of Duchenne muscular dystrophy (DMD) in male and female gametes. The practical significance of this information is best appreciated by considering an extreme case: if all mutations occur in males, then all mothers of affected boys must be carriers (since no mutations can occur during their own oogenesis), and are therefore at high risk of having further affected sons. But if male and female mutation rates are equal, a third of mothers will be noncarriers, with a very low risk of having another affected child. There are also important strategic implications for disease prevention—carrier screening will be more effective if most affected boys are born to carrier mothers, who could, in principle, be detected before pregnancy.

Were there a reliable carrier test for DMD, this question would be resolved simply by testing mothers. In

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