Respiratory failure is a life-threatening complication of myotonic dystrophy type 1 (DM1), a disorder caused by abnormal expansion of CTG trinucleotide repeats in the 3′ untranslated region of the DM1 protein kinase gene. But does respiratory failure in DM1 involve the diaphragm muscle only or is the neuronal network that controls the respiratory rhythm also involved? To find out, Panaite et al. analysed DMSXL transgenic mice, an established animal model for congenital DM1. They report that DMSXL mice have impaired respiratory function, pathological changes in their muscle fibres and diaphragmatic neuromuscular junctions, and reduced numbers of unmyelinated phrenic afferents. These results suggest that, although failed communication between the diaphragmatic muscle fibres and nerve endings might be the main cause of respiratory failure in DMSXL mice, altered regulation of breathing could also be involved. Page 622
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