case_images: PMC5588509_01
case_images: Magnetic resonance imaging scan of the patient. The arrow indicates cerebellar atrophy, while the arrowhead points to the dilated 4th ventricle.
case_images: mpp-0025-0580-g01.jpg
case_images: PMC5588509_01_mpp-0025-0580-g01.jpg
case_images: F1
case_images: X-ray computer tomography and magnetic resonance imaging of the brain revealed cerebellar atrophy with a dilated 4th ventricle (fig. 1).
case_images: Chromatograms of the patient (a), mother (b) and father (c) showing the indel mutation. d Schematic diagram showing the deletion in the context of the gene structure. The box with a red outline represents the deletion, while the shaded box with a green outline shows the ER signal sequence (colors refer to the online version only).
case_images: mpp-0025-0580-g02.jpg
case_images: PMC5588509_01_mpp-0025-0580-g02.jpg
case_images: F2
case_images: Both parents turned out to be heterozygous carriers of the same c.-197_90delinsCTGTACTTTCTCAGTTCACT mutation (fig. 2).