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Article

Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathy.

Prenatal diagnosis - 1 Jan 2012

Yonath Hagith, Reznik-Wolf Haike, Berkenstadt Michal, Eisenberg-Barzilai Shlomit, Lehtokari Vilma-Lotta, Wallgren-Pettersson Carina, Mehta Lakshmi, Achiron Reuven, Gilboa Yinon, Polak-Charcon Sylvie, Winder Thomas, Frydman Moshe, Pras Elon

Abstract excerpt

OBJECTIVE: To increase awareness to the possibility of nemaline myopathy (NM) when abnormal prenatal ultrasound findings appear together with a carrier state for the common exon 55 deletion in the nebulin gene (NEB) of an Ashkenazi Jewish parent. METHODS: We describe four unrelated pregnancies wi...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22367672
DOI: 10.1002/pd.2905

Genes

NEB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22367672-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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