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. 2009 Apr;24(4):425-30.
doi: 10.1177/0883073808324770. Epub 2008 Dec 12.

Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy

Christopher Cunniff  1 , Jennifer Andrews, F John Meaney, Katherine D Mathews, Dennis Matthews, Emma Ciafaloni, Timothy M Miller, John B Bodensteiner, Lisa A Miller, Katherine A James, Charlotte M Druschel, Paul A Romitti, Shree Pandya
Affiliations

Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy

Christopher Cunniff et al. J Child Neurol. 2009 Apr.

Abstract

The type and frequency of diagnostic testing was analyzed in a population-based cohort of boys with Duchenne muscular dystrophy or Becker muscular dystrophy. Use of muscle biopsy declined from 66.0% of boys born between January 1982 and September 1987 to 32.6% born between April 1999 and September 2004. DMD mutation was documented for 345 (73.4%) boys. Deletions were more common and point mutations were less common than that has been reported in specialty clinic or laboratory-based cohorts. Deletion of one or more exons was detected in 270 individuals (57.4% of all patients and 78.3% with a DMD mutation). Duplication was identified in 39 individuals (8.3% of all patients and 11.3% with a DMD mutation). Point mutation, small insertion, or small deletion was found in 36 individuals (7.7% of all patients and 10.4% with a DMD mutation). Point mutation analysis was performed in only 37 of 130 (28.5%) individuals with negative deletion and/or duplication testing.

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Conflict of interest statement

The authors have no conflicts of interest to disclose with regard to this article.

Figures

Figure 1
Figure 1
Percent of definite or probable cases with documented diagnostic test results by date of birth.
See this image and copyright information in PMC

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