The eight syndromic patients were: one patient with glycogen storage disease XV (GYG1); one patient with Becker muscular dystrophy (DMD); one patient with polycystic kidney disease (PKD); one patient with glycogen storage disease IV (GBE1) and four patients with systemic manifestations of transthyretin amyloidosis (TTR). The gene discussed is TTR; the disease is Familial transthyretin-related amyloidosis.