Kay E. Davies

TL;DR: The data confirm the close evolutionary relationships between the DMD and utrophin loci; however, the functions for the corresponding proteins probably differ.

TL;DR: The results show that dystrobrevin-deficiency is a generic feature of dystrophies linked to Dystrophin and the dystrophicin-associated proteins, the first indication that a cytoplasmic component of the dyStrophin- associated protein complex may be involved in the pathogenesis of limb-girdle muscular dystrophy.

TL;DR: Interest in the identification and manipulation of important regulatory regions and/or molecules that increase the expression of utrophin and their delivery to dystrophin-deficient tissue and as pre-existing cellular mechanisms are utilized, this approach would avoid many problems associated with conventional gene therapies.

TL;DR: Within pre-mutation carriers of FraX, ageing, increases in the number of CGG trinucleotide repeats and decreases in %FMRP(+) lymphocytes were associated with decreasing voxel density of regions previously identified as decreased relative to controls, suggesting, for the first time, an association between voxels density reduction and genetic variation in FraX.

TL;DR: MRI could identify cardiac abnormalities in the RV of mdx mice as young as 1 month, and detected myocardial fibrosis at 6 months, believed to be the earliest MRI measurements of cardiac function reported for any mice, and the first use of late-gadolinium-enhancement in a mouse model of congenital cardiomyopathy.