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Patients with Duchenne muscular dystrophy (DMD) develop dilated cardiomyopathy and are at risk for kidney injury. Creatinine based estimated glomerular filtration rate (eGFR) is limited by low muscle mass with low serum creatinine levels in DMD. We assessed the relationship between cardiac function, modified Schwartz eGFR and cystatin C eGFR in patients with DMD. Ninety-three patients with DMD were...
Plectin mutations have been reported in epidermolysis bullosa simplex with muscular dystrophy. We report the first case of left ventricular non-compaction in an 18-year-old male with epidermolysis bullosa simplex with muscular dystrophy. The patient was diagnosed with epidermolysis bullosa simplex after blistering was noted at birth. Motor function difficulties were first recognized at age 11, however...
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