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Article

Genetics of neuromuscular fetal akinesia in the genomics era.

Journal of medical genetics - 1 Aug 2018

Beecroft Sarah Jane, Lombard Marcus, Mowat David, McLean Catriona, Cairns Anita, Davis Mark, Laing Nigel G, Ravenscroft Gianina

Abstract excerpt

Fetal hypokinesia or akinesia encompasses a broad spectrum of disorders, united by impaired movement in utero. Often, the underlying aetiology is genetic in origin, affecting part of the neuromuscular system. The affordable and high-throughput nature of next-generation DNA sequencing has led to an explosion in disease gene discovery across rare diseases, including fetal akinesias. A genetic diagnosis has clinical...

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PMID: 29959180
DOI: 10.1136/jmedgenet-2018-105266

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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