Indian J Med Microbiol Close
 

Figure 1: Pedigree, magnetic resonance imaging (MRI), and Sanger sequencing chromatography. (a) Only the proband reports the symptom (black arrow). (b) In the brain MRI, high signal intensities are identified on the internal capsule posterior limbs and optic radiation (white arrows). Spinal cord MRI does not show any abnormalities. (c) Sanger sequencing in the proband confirms the heterozygous variant c.520dupG (p.Val174Glyfs*30, NM_000533.3) in PLP1. Both parents and the youngest brother do not carry this variant

Figure 1: Pedigree, magnetic resonance imaging (MRI), and Sanger sequencing chromatography. (a) Only the proband reports the symptom (black arrow). (b) In the brain MRI, high signal intensities are identified on the internal capsule posterior limbs and optic radiation (white arrows). Spinal cord MRI does not show any abnormalities. (c) Sanger sequencing in the proband confirms the heterozygous variant c.520dupG (p.Val174Glyfs*30, NM_000533.3) in <i>PLP1</i>. Both parents and the youngest brother do not carry this variant