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The NOTCH3 mutation, APOE and MTHFR polymorphisms had been based on high-resolution melting analyses (HRMA) and Sanger sequencing. Neuroimaging included CT and MRI. Ultrastructural examination of skin-muscle biopsy material of this proband had been carried out. RESULTS The NOTCH3 Y189C mutation was contained in a 36-year-old girl and her two siblings (aged 40 and 27) from 6 siblings. The MA had been found in them all, and began or became more serious after chil