Mutation analysis in a population-based cohort of boys with duchenne or becker muscular dystrophy

Christopher Cunniff, Jennifer Andrews, John F. 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

Research output: Contribution to journalArticlepeer-review

20 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)425-430
Number of pages6
JournalJournal of Child Neurology
Volume24
Issue number4
DOIs
StatePublished - Apr 16 2009

Keywords

  • Epidemiology
  • Genetics
  • Health services research
  • Neuromuscular disease

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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