Brain imaging indicates genotype-phenotype association in Duchenne muscular dystrophy

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We previously reported on structural alterations in the brain in Duchenne muscular dystrophy (DMD) patients, compared to healthy age-matched controls, namely reduced total brain and grey matter volume. There was an indication that patients missing dystrophin isoform Dp140 in addition to the full length Dp427 had the lowest volume. We now studied if patients with mutations in the DMD gene that lead to missing a functional Dp71 isoform as well were even more affected. 3D T1-weighted images were obtained on a 3T Philips system using an 8-channel head coil at two different sites.

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