2018
DOI: 10.1101/347179
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Mutations in nucleoporinNUP88cause lethal neuromuscular disorder

Abstract: Fetal akinesia deformation sequence (FADS) comprises a spectrum of clinically and genetically heterogeneous disorders with congenital malformations related to impaired fetal movement. FADS often results from mutations in genes affecting the muscle nicotinic acetylcholine receptor (AChR). Here we describe mutations in NUP88 coding for the nucleoporin NUP88 as a novel cause of lethal FADS in two families. A homozygous c.1300G>T (p.D434Y) mutation in two individuals and a compound heterozygous mutation c.1525C>T … Show more

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