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Article

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

Journal of child neurology - 1 Apr 2009

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

Abstract excerpt

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...

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Source

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Identifiers

PMID: 19074751
DOI: 10.1177/0883073808324770
PMCID: PMC5882193

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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