Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome

Figure 3

Sanger sequencing (from the patient and parental samples): (a) the homozygous insertion of a single base (T) at codon 21 in exon 3 of the DNAJC19 gene, c.62dup (p.Tyr21Ter) in the patient’s sample (arrow); (b) the heterozygous insertion of a single base (T) at codon 21 in exon 3 of the DNAJC19 gene, c.62dup (p.Tyr21Ter) in the maternal sample (arrow); (c) the heterozygous insertion of a single base (T) at codon 21 in exon 3 of the DNAJC19 gene, c.62dup (p.Tyr21Ter) in the paternal sample (arrow).