Influence of full-length dystrophin on brain volumes in mouse models of Duchenne muscular dystrophy

PLoS One. 2018 Mar 30;13(3):e0194636. doi: 10.1371/journal.pone.0194636. eCollection 2018.


Duchenne muscular dystrophy (DMD) affects besides muscle also the brain, resulting in memory and behavioral problems. The consequences of dystrophinopathy on gross macroscopic alterations are unclear. To elucidate the effect of full-length dystrophin expression on brain morphology, we used high-resolution post-mortem MRI in mouse models that either express 0% (mdx), 100% (BL10) or a low amount of full-length dystrophin (mdx-XistΔhs). While absence or low amounts of full-length dystrophin did not significantly affect whole brain volume and skull morphology, we found differences in volume of individual brain structures. The results are in line with observations in humans, where whole brain volume was found to be reduced only in patients lacking both full-length dystrophin and the shorter isoform Dp140.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Brain / pathology*
  • Disease Models, Animal
  • Dystrophin / metabolism*
  • Female
  • Male
  • Mice
  • Muscular Dystrophy, Duchenne / metabolism*
  • Muscular Dystrophy, Duchenne / pathology*
  • Organ Size


  • Dystrophin

Associated data

  • Dryad/10.5061/dryad.7s2dq

Grant support

BK was supported European Union Bioimage-NMD project (, Seventh Framework Programme (FP7/2007-2013) under grant 602485. AK was supported by Percuros B.V. by the FP7 European Union Marie Curie IAPP Program, BRAINPATH (, under grant 612360. The funder Percuros B.V. provided support in the form of salaries for author AK, but did not, as all other funders, have any additional role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript. The specific roles of these authors are articulated in the ‘author contributions’ section.