In mammals, an array of MEF2C proteins is generated by alternative splicing (AS), yet specific functions have not been ascribed to each isoform. Teleost fish possess two MEF2C paralogues, mef2ca and mef2cb. In zebrafish, the Mef2cs function to promote cardiomyogenic differentiation and myofibrillogenesis in nascent skeletal myofibers. We found that… (More)
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OBJECTIVE With the emergence of experimental therapies for Duchenne muscular dystrophy (DMD), it is fundamental to understand the natural history of this disorder to properly design clinical trials. The aims of this study were to assess the effects produced on motor function by different DMD genotypes and early initiation of glucocorticoids. METHODS… (More)
High variability in patients' changes in 6 minute walk distance (6MWD) over time has complicated clinical trials of treatment efficacy in Duchenne muscular dystrophy (DMD). We assessed whether boys with DMD could be grouped into classes that shared similar ambulatory function trajectories as measured by 6MWD. Ambulatory boys aged 5 years or older with… (More)
The RYR1 gene encodes the skeletal muscle isoform ryan-odine receptor which is fundamental for excitation-contraction coupling and calcium homeostasis of skeletal muscle. Mutations in RYR1 are associated with malignant hyper-thermia (MH), Central core (CCD) and Multiminicore (MMC) myopathies. CCD is characterised by the presence of amorphous areas (cores)… (More)