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.

Detalles Bibliográficos
Autores principales: Dai, Xiafei, Luo, Rong, Chen, Yang, Zheng, Chenqing, Tang, Yibin, Zhang, Hongmei, Su, Ye, He, Tao, Li, Xiaoping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7463389/
https://www.ncbi.nlm.nih.gov/pubmed/32908726
http://dx.doi.org/10.1155/2020/2071738
Descripción
Sumario: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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