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

Abstract 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...

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Veröffentlicht in:	Neuromuscular disorders : NMD 2010-08, Vol.20 (8), p.531-533
Hauptverfasser:	Stenzel, Werner, Prokop, Stefan, Kress, Wolfram, Huppmann, Stephanie, Loui, Andrea, Sarioglu, Nanette M.E, Laing, Nigel G, Sparrow, John C, Heppner, Frank L, Goebel, Hans H
Format:	Artikel
Sprache:	eng
Schlagworte:	ACTA1 Actin Cytoskeleton - genetics Actin Cytoskeleton - pathology Actin filament aggregate myopathy Adult DNA - genetics Female Fetal akinesia sequence Fetal Diseases - genetics Fetal Diseases - pathology Humans Infant, Newborn Microfilament Proteins - genetics Muscle, Skeletal - pathology Mutation - genetics Mutation - physiology Nemaline myopathy Neurology Neuromuscular Diseases - genetics Neuromuscular Diseases - pathology Pregnancy Sarcomeres - genetics
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