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 language | English (US) |
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Pages (from-to) | 425-430 |
Number of pages | 6 |
Journal | Journal of Child Neurology |
Volume | 24 |
Issue number | 4 |
DOIs | |
State | Published - 2009 |
Keywords
- Epidemiology
- Genetics
- Health services research
- Neuromuscular disease
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Clinical Neurology