A Novel EMD Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy

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.

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Bibliographische Detailangaben
Veröffentlicht in:	Case reports in genetics 2020-08, Vol.2020 (2020), p.1-7
Hauptverfasser:	Li, Xiaoping, He, Tao, Zhang, Hongmei, Tang, Yibin, Zheng, Chenqing, Chen, Yang, Luo, Rong, Dai, Xiafei, Su, Ye
Format:	Artikel
Sprache:	eng
Schlagworte:	Case Report Genetic aspects Medical research Medicine, Experimental Muscular dystrophy
Online-Zugang:	Volltext
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Beschreibung
Zusammenfassung:	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.
ISSN:	2090-6544 2090-6552
DOI:	10.1155/2020/2071738