Fetal akinesia caused by a novel actin filament aggregate myopathy skeletal muscle actin gene (ACTA1) mutation.

We report a female newborn, diagnosed with fetal akinesia in utero, who died one hour after birth. Post-mortem muscle biopsy demonstrated actin-filament myopathy based on immunolabelling for sarcomeric actin, and large areas of filaments, without rod formation, ultrastructurally. Analysis of DNA extracted from the muscle disclosed a novel de novo heterozygous c.

The transcription factor Ets-1 is expressed in human amniochorionic membranes and is up-regulated in term and preterm premature rupture of membranes.

Objective: The major tensile strength of fetal membranes is provided by their extracellular matrix (ECM) components. The transcription factor Ets-1 is a critical mediator of ECM remodelling. The purpose of this study was to examine whether Ets-1 is expressed in human fetal membranes and whether it is implicated in premature membrane rupture.