TY - JOUR
T1 - Fetal akinesia caused by a novel actin filament aggregate myopathy skeletal muscle actin gene (ACTA1) mutation
AU - Stenzel, Werner
AU - Prokop, Stefan
AU - Kress, Wolfram
AU - Huppmann, Stephanie
AU - Loui, Andrea
AU - Sarioglu, Nanette M. E.
AU - Laing, Nigel G.
AU - Sparrow, John C.
AU - Heppner, Frank L.
AU - Goebel, Hans H.
PY - 2010/8
Y1 - 2010/8
N2 - We report a female newborn, diagnosed with fetal akinesia in utero, who died one hour after birth. Postmortem 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.44G>A, GGC>GAC, 'p.Gly15Asp' mutation in the ACTA1 gene. Analysis of the location of the mutated amino-acid in the actin molecule suggests the mutation most likely causes abnormal nucleotide binding, and consequent pathological actin polymerization. This case emphasizes the association of fetal akinesia with actin-filament myopathy. (C) 2010 Elsevier B.V. All rights reserved.
AB - We report a female newborn, diagnosed with fetal akinesia in utero, who died one hour after birth. Postmortem 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.44G>A, GGC>GAC, 'p.Gly15Asp' mutation in the ACTA1 gene. Analysis of the location of the mutated amino-acid in the actin molecule suggests the mutation most likely causes abnormal nucleotide binding, and consequent pathological actin polymerization. This case emphasizes the association of fetal akinesia with actin-filament myopathy. (C) 2010 Elsevier B.V. All rights reserved.
KW - ACTA1
KW - Nemaline myopathy
KW - Actin filament aggregate myopathy
KW - Fetal akinesia sequence
KW - CONGENITAL MYOPATHY
KW - NEMALINE MYOPATHY
UR - http://www.scopus.com/inward/record.url?scp=77955266199&partnerID=8YFLogxK
U2 - 10.1016/j.nmd.2010.06.008
DO - 10.1016/j.nmd.2010.06.008
M3 - Article
SN - 0960-8966
VL - 20
SP - 531
EP - 533
JO - Neuromuscular disorders
JF - Neuromuscular disorders
IS - 8
ER -