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Article

Detection of gonosomal mosaicism by ultra-deep sequencing and droplet digital PCR in patients with Emery-Dreifuss muscular dystrophy.

Molecular genetics & genomic medicine - 1 Jun 2023

Xie Yanshu, Luo Jingsi, Zhong Jingzi, Liu Xu, Tang Jing, Lan Dan

Abstract excerpt

BACKGROUND: 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. METHODS: A peripheral blood sample...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36897110
DOI: 10.1002/mgg3.2161
PMCID: PMC10265099

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