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Article

Null variants in AGRN cause lethal fetal akinesia deformation sequence.

Clinical genetics - 1 Apr 2020

Geremek Maciej, Dudarewicz Lech, Obersztyn Ewa, Paczkowska Magdalena, Smyk Marta, Sobecka Katarzyna, Nowakowska Beata

Abstract excerpt

We present a case of lethal fetal akinesia deformation sequence (FADS) caused by a frameshift variant in trans with a 148 kbp deletion encompassing 3-36 exons of AGRN. Pathogenic variants in AGRN have been described in families with a form of congenital myasthenic syndrome (CMS), manifesting in the early childhood with variable fatigable muscle weakness. To the best of our knowledge, this is the first case of...

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Identifiers

PMID: 31730230
DOI: 10.1111/cge.13677

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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