NOTCH3 and infantile myofibromatosis: A conundrum is that not all cysteine-sparing NOTCH3 mutations appear to give rise to vascular disease; a family carrying a NOTCH3L1519P mutation (located four amino acid residues away from the NOTCH3L1515P mutation) instead presented with infantile myofibromatosis (see above), although the NOTCH3L1519P receptor, like the NOTCH3L1515P receptor, produced hyperactive Notch signalling [70,104].