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

<div>Sanger sequencing DNA chromatogram of the pedigree (II-2, III-1, III-2, and III-3). (a) III-1 was normal. (b) II-2 presented with a heterozygous frameshift mutation (c.487delA, p.Ser163fs). (c) III-2 and III-3 showed a hemizygous frameshift mutation (c.487delA, p.Ser163fs).</div>

Case Reports in Genetics

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Figure 4

Figure 4: A Novel <i>EMD</i> Mutation Identified by Whole-Exome Sequencing in Twins with Emery–Dreifuss Muscular Dystrophy 

Case Reports in Genetics

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

Figure 4