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Article

LMOD3-Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine - 1 Jul 2018

Berkenstadt Michal, Pode-Shakked Ben, Barel Ortal, Barash Hila, Achiron Reuven, Gilboa Yinon, Kidron Dvora, Raas-Rothschild Annick

Abstract excerpt

To describe the prenatal presentation, including ultrasonographic, histologic, and molecular findings, in 2 fetuses affected with LMOD3-related nemaline myopathy. Prenatal ultrasonographic examinations and histopathologic studies were performed on 2 fetuses with evidence of nemaline myopathy. To establish a molecular diagnosis, whole-exome sequencing was pursued for the affected fetuses. Nemaline myopathy is a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29331079
DOI: 10.1002/jum.14520

Genes

LMOD3

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