Clinical Heterogeneity of Duchenne Muscular Dystrophy (DMD): Definition of Sub-Phenotypes and Predictive Criteria by Long-Term Follow-Up
Figure 5
Genotype/phenotype correlations.
Proportion of patients with a mutation upstream to exon 30 steadily increased from group A to D. This ascent correlated with spared cognition (mental status: p<0.0003) but not with motor function (age at ambulation loss: NS) (Fisher's exact test). Expectedly, the 3 patients with mutation after exon 63 affecting the brain specific DP71 transcript were classified in group A.