Detection of gonosomal mosaicism by ultra ‐deep sequencing and droplet digital PCR in patients with Emery–Dreifuss muscular dystrophy
ConclusionWe described a case of EDMD2 caused by maternal gonosomal mosaicism which was confirmed by using ultra-deep sequencing and ddPCR. This study illustrates the importance of a systematic and comprehensive screening of parental mosaicism with more sensitive approaches and the use of multiple tissue samples.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Yanshu Xie,
Jingsi Luo,
Jingzi Zhong,
Xu Liu,
Jing Tang,
Dan Lan Tags: ORIGINAL ARTICLE Source Type: research
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