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Figure 1 | BMC Medical Genetics

Figure 1

From: A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency

Figure 1

Family structure and MRI findings. (A) Pedigree of the consanguineous family with two affected brothers (filled squares). The AP4M1 genotypes are indicated below the symbols. The AT nucleotides (c.194-195) represent the wild-type allele that is deleted (−−) on both alleles in the two affected brothers. (B) Sagittal T2-weighted MR image of ind. IV:3 shows a thin posterior third of the corpus callosum (white arrow). The upper vermis is slightly hypoplastic/atrophic (black arrow). (C) T1-weighted transverse image displays very wide temporal horns (arrow). The liquor containing space around the mesencephalon (*) is enlarged indicating slight dimensions of the brain stem and medial temporal lobes.

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BMC Medical Genetics

ISSN: 1471-2350

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