Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) has a high incidence of learning and behavioural problems and comorbidity with neurodevelopmental disorders such as autism-spectrum disorders, attention-deficit hyperactivity disorder, obsessive-compulsive disorder, and dyslexia. To gain more insights into the role of dystrophin in this cognitive phenotype, we performed a comprehensive analysis of the expression patterns of dystrophin isoforms across healthy human brain development, using transcriptomic data from Allen Human Brain and BrainSpan atlases.

Source: Neuromuscular Disorders - September 10, 2017 Category: Neurology Authors: N. Doorenweerd, A. Mahfouz, M. van Putten, R. Kaliyaperumal, P. ‘t Hoen, J. Hendriksen, A. Aartsma-Rus, J. Verschuuren, E. Niks, M. Reinders, H. Kan, B. Lelieveldt Source Type: research