Fig. 1From: A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature reviewFamily pedigree and results of the variant in the DNM1L gene of the proband (II-2). Sanger sequencing confirmed the presence of the heterozygous variant c.2161C>T, p.Gln721Ter in the proband compared to the wild type sequence in the parentsBack to article page