Phenotype heterogeneity within the DMD population has long been noted but until recently there has been a relative dearth of understanding of the relationship between genotype and phenotype. Prior studies have suggested some genotype-specific phenotypic variations (exon 3ā€“7 deletions, exon 44 skippable genotypes, exon 53 skippable genotypes). Genotype-phenotype associations were evaluated with regard to age at loss of ambulation within the Cincinnati Children’s Hospital Medical Center (CCHMC) DMD Natural History Database (nā€‰=ā€‰574) with focus on genotypes amenable to exon skipping therapies and genotypes with significant patient numbers.

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