Diagnosis of fetal nemaline myopathy by whole-exome sequencing: case report and review of literature

Diagnosis of fetal nemaline myopathy by whole-exome sequencing: case report and review of literature

Objective: In this article we present a case of fetal nemaline myopathy (NM) diagnosed by whole-exome sequencing (WES) and confirmed by fetal muscular pathology, and we review the clinical, pathological, and genetic characteristics of congenital NM. Method: A pregnant woman with recurrent fetal hydr...

Full description

Bibliographic Details
Main Authors: Q.C. Wu, L. Sun, Y.S. Xu, X.M. Yang, L.K. Zheng
Format: Article
Language:English
Published: IMR Press 2020-12-01
Series:Clinical and Experimental Obstetrics & Gynecology
Subjects:
nemaline myopathy
fetal akinesia
gene
pathology
whole-exome sequencing
Online Access:https://www.imrpress.com/journal/CEOG/47/6/10.31083/j.ceog.2020.06.2096

Internet

https://www.imrpress.com/journal/CEOG/47/6/10.31083/j.ceog.2020.06.2096

Similar Items