MACF1 and quadriplegia: In this study, parental-derived compound heterozygous novel missense mutations of <i>MACF1</i>, c.1517C>T (p.Thr506Ile) and c.11654T>C (p.Ile3885Thr), were found to co-segregate with disease status in two affected brothers presenting with progressive spastic tetraplegia, dystonia, joint contracture, feeding difficulty and developmental delay.