Detection of gonosomal mosaicism by ultra-deep sequencing and droplet digital PCR in patients with Emery–Dreifuss muscular dystrophy
Yanshu Xie, Jingsi Luo, Jingzi Zhong, Xu Liu, Jing Tang, Dan Lan
Journal：Molecular Genetics & Genomic Medicine
IF：2
DOI：10.1002/mgg3.2161
PMID：
Published：2023-03-10
research field：神经科学医学遗传学分子生物学结构生物学遗传学
Abstract
Emery–Dreifuss muscular dystrophy (EDMD2) is a rare form of muscular dystrophy that is inherited as an autosomal dominant trait. In some patients, it is inherited from parental mosaicism, and this increases the recurrence risk significantly. The presence of mosaicism is underestimated due to the limitations of genetic testing and the difficulty in obtaining samples.
