Population
Population-based cohort of boys with Duchenne muscular dystrophy or Becker muscular dystrophy (n=470)
Design
Cohort
Authors
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Supports genetic-first diagnosis in DMD/BMD; extends population-based mutation data but leaves biopsy role open for prospective study.
In a population-based cohort of boys with Duchenne or Becker muscular dystrophy, deletions were the most common mutation, and the use of muscle biopsy for diagnosis declined over time.
Cunniff et al. (2008) studied this question.
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