Key result
While overall deletion size was independent of phenotype, specific gene deletions in the DMD/BMD gene correlated with clinical severity, with certain deletions associated exclusively with BMD or DMD.
Population
287 males affected with Duchenne or Becker muscular dystrophy (DMD/BMD)
Design
Cross-sectional, Clinical group allocation was made without previous knowledge…
Authors
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Specific DMD/BMD deletions correlate with severity; leaves open precise genotype-phenotype prediction for progression.
Observational (n=287)
Blinded to DNA results
Specific gene deletion types, rather than deletion size, correlate with the clinical severity of Duchenne and Becker muscular dystrophy, emphasizing a continuous clinical spectrum.
Hodgson et al. (1989) conducted an observational in Duchenne and Becker muscular dystrophy (n=287). Specific DMD/BMD gene deletions was evaluated on Correlation of gene deletions with clinical severity. While overall deletion size was independent of phenotype, specific gene deletions in the DMD/BMD gene correlated with clinical severity, with certain deletions associated exclusively with BMD or DMD.
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