Open AccessDiagnosis of fetal nemaline myopathy by whole-exome sequencing: case report and review of literature
Author(s) -
Qichang Wu,
Limei Sun,
Yasong Xu,
X.M. Yang,
Lulu Zheng
Publication year - 2020
Publication title -
clinical and experimental obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.157
H-Index - 33
eISSN - 2709-0094
pISSN - 0390-6663
DOI - 10.31083/j.ceog.2020.06.2096
Subject(s) - nemaline myopathy , medicine , exome sequencing , polyhydramnios , pathology , prenatal diagnosis , fetus , nebulin , compound heterozygosity , sanger sequencing , congenital myopathy , hydrops fetalis , etiology , pathological , genetic testing , amniotic fluid , myopathy , muscle biopsy , pregnancy , mutation , biopsy , genetics , biology , titin , gene , sarcomere , myocyte