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Urinary titin in myotonic dystrophy type 1

机译:Urinary titin in myotonic dystrophy type 1

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Abstract Introduction/Aims Urinary titin, an easy‐to‐obtain marker, has been investigated in muscular dystrophies, but not in myotonic dystrophy type 1 (DM1). We investigated the role of titin as a biomarker of muscle injury in DM1. Methods We compared the urinary titin N‐fragment/creatinine ratio in 29 patients with DM1 vs. 30 healthy controls. We also recorded clinical data such as muscle strength, serum creatine kinase, DM1‐related outcome measures, and the 20‐item DM1‐activ questionnaire. The severity of the disease was graded using the Muscular Impairment Rating Scale (MIRS). Results The titin/creatinine ratio was significantly higher in the urine samples of DM1 patients than of healthy controls (median?± mean absolute deviation [MAD]: 39.313?±?26.546 vs. 6.768?±?5.245?pmol/mg creatinine; P?

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