FXR1 is an alternatively spliced gene that encodes RNA binding proteins (FXR1P) involved in muscle development. In contrast to other tissues, cardiac and skeletal muscle express two FXR1P isoforms that incorporate an additional exon-15. We report that recessive mutations in this particular exon of FXR1 cause congenital multi-minicore myopathy in humans and mice. Additionally, we show that while Myf5-dependent depletion of all FXR1P isoforms is neonatal lethal, mice carrying mutations in exon-15 display non-lethal myopathies which vary in severity depending on the specific effect of each mutation on the protein.

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The Distress Risk Assessment Method (DRAM) was presented by Main, Wood and Hillis in 1992 as a simple means of assessing the risk of failure due to psychosocial factors in spine surgery. To our knowledge, it has not been used in our setting. The aim of this study was to analyse the usefulness of the Spanish translation of this instrument to predict poor outcomes. Methods: A prospective blind study was conducted including 65 patients undergoing spine surgery. We created two groups of patients based on DRAM score: not distressed (NDRAM) or distressed (DDRAM). A visual analogue scale for pain and the 12-Item Short Form Health Survey (SF-12) were used at baseline, 6 weeks and 6 months. Results: 24 patients were classified as DDRAM and 38 as NDRAM, with 3 patients not completing the questionnaires. The analysis found no significant differences in the demographic or clinical variables at baseline. At 6 weeks and 6 months, the NDRAM group showed improvements in low back pain (p < 0.001; p = 0.005), leg pain (p < 0.001; p = 0.017), physical health (p = 0.031; p = 0.003) and mental health (p = 0.137; p = 0.049). In contrast, in the DDRAM group, though leg pain score improved (p < 0.001; p = 0.002), there was no improvement at 6 weeks or 6 months in low back pain (p = 0.108; p = 0.287), physical health (p = 0.620; p = 0.263) or mental health (p = 0.185; p = 0.329). Conclusions: In our setting, the DRAM is a useful screening tool, and it has allowed the creation of a program between psychiatry and spine surgery.