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

• Main Authors: Q.C. Wu (Author), L. Sun (Author), Y.S. Xu (Author), X.M. Yang (Author), L.K. Zheng (Author)
• Format: Knjiga
• Izdano: IMR Press, 2020-12-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

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...