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

Departments of Pediatrics and Neurology and the Steele Research Center, University of Arizona College of Medicine, Tucson, Arizona, ccunniff{at}peds.arizona.edu

Jennifer Andrews, MBA

Departments of Pediatrics and Neurology and the Steele Research Center, University of Arizona College of Medicine, Tucson, Arizona

F. John Meaney, PhD

Departments of Pediatrics and Neurology and the Steele Research Center, University of Arizona College of Medicine, Tucson, Arizona

Katherine D. Mathews, MD

Department of Pediatrics, University of Iowa College of Medicine, Iowa City, Iowa

Dennis Matthews, MD

Department of Physical Medicine and Rehabilitation, University of Colorado School of Medicine, Denver, Colorado

Emma Ciafaloni, MD

Department of Neurology, University of Rochester College of Medicine and Dentistry, Rochester, New York

Timothy M. Miller, MD

Departments of Pediatrics and Neurology and the Steele Research Center, University of Arizona College of Medicine, Tucson, Arizona

John B. Bodensteiner, MD

St Joseph's Hospital, Tucson, Arizona

Lisa A. Miller, MD, MSPH

Colorado Department of Public Health and Environment, Denver, Colorado

Katherine A. James, MSPH

Colorado Department of Public Health and Environment, Denver, Colorado

Charlotte M. Druschel, MD, MPH

New York Department of Health, New York

Paul A. Romitti, PhD

Department of Pediatrics, University of Iowa College of Medicine, Iowa City, Iowa

Shree Pandya, MS

Department of Neurology, University of Rochester College of Medicine and Dentistry, Rochester, New York

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.

Key Words: epidemiology • genetics • health services research • neuromuscular disease

This version was published on April 1, 2009

Journal of Child Neurology, Vol. 24, No. 4, 425-430 (2009)
DOI: 10.1177/0883073808324770


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