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Fig. 2 | BMC Neurology

Fig. 2

From: Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review

Fig. 2

Structural and quantitative MRI of patients and a healthy age matched control. a;b;e;f;i: T2-weighted images at the corrected age of 12 months (a, e) and 2 years (b, f, i) of patients II-1 (a, b) and patient II-2 (e, f) and control (i) showing brain atrophy and significant delayed myelination in the patients. c;d;g;h;j;k: T1-weighted images and overlay of color coded MT saturation maps onto the corresponding T1-weighted images of both patients (c, d, g, h) and an age matched control (j, k) at age 2 years. Yellow represents high signal intensity considered to arise from properly myelinated WM. Both patients show widespread marked reductions of the myelinsensitive parameter MT saturation [12] when compared to the age matched control thereby emphasizing the delayed myelination. For detailed information about MT saturation maps see Additional file 1

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