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Mutation Analysis in a Population-Based Cohort of Boys With Duchenne or Becker Muscular Dystrophy

¹ Depts of Pediatrics and Neurology and Steele Research Center, University of Arizona College of Medicine, Tucson, Arizona
² Department of Pediatrics, University of Iowa College of Medicine, Iowa City, Iowa
³ Department of Physical Medicine and Rehabilitation, University of Colorado School of Medicine, Denver, Colorado
⁴ Department of Neurology, University of Rochester College of Medicine and Dentistry, Rochester, New York
⁵ St Joseph’s Hospital, Tucson, Arizona
⁶ Colorado Department of Public Health and Environment, Denver, Colorado
⁷ New York Department of Health, New York

^* To whom correspondence should be addressed. E-mail: ccunniff{at}peds.arizona.edu.

	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.

First published on December 12, 2008, doi:10.1177/0883073808324770

Journal of Child Neurology 2009;24:425.

A more recent version of this article appeared on April 1, 2009


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