A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy
Open Access
- 24 August 2020
- journal article
- Published by Hindawi Limited in Case Reports in Genetics
- Vol. 2020, 1-7
- https://doi.org/10.1155/2020/2071738
Abstract
This case reports a novel hemizygous frameshift EMD mutation (c.487delA, p.Ser163fs) in twins of an Emery–Dreifuss muscular dystrophy family with severe cardiac involvement and mild muscle weakness. Their mother carried the same heterozygous mutation.Keywords
Funding Information
- National Natural Science Foundation of China (81470521, 81770379, 2019YFS0345)
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