Autor: Meyer, A. P., Barnett, C. L., Myers, K., Siskind, C. E., Moscarello, T., Logan, R., Roggenbuck, J., Rich, K. A.
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Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study
BackgroundPathogenic variants in TTN cause a spectrum of autosomal dominant and recessive cardiovascular, skeletal muscle and cardioskeletal disease with symptom onset across the lifespan. The aim of this study was to characterise the genotypes and phe…