PMC:5590178 / 6402-7656 JSONTXT

{"project":"2_test","denotations":[{"id":"28882119-18792771-12765635","span":{"begin":408,"end":410},"obj":"18792771"}],"text":"Clinical features and GFAP sequences of the proband. a Comparison between human and zebrafish GFAP, and location of amino acid residues whose mutations are discussed in this study. Human GFAP: NCBI accession number NP_002046; zebrafish Gfap: NP_571448. D: aspartate; R: arginine. b Pedigree of individuals with p.Asp128Asn GFAP shown as solid symbols. Symbols and nomenclature follow established guidelines [44]. A small circle within a square or a circle indicates an individual who tested negative for a GFAP mutation. P, proband. c-e Brain MR images of the proband. c Sagittal T2-weighted MR image shows marked atrophy of the medullar oblongata (arrow). d Sagittal T1-weighted MR image reveals prominent atrophy in the upper cervical cord (arrow) and cerebellar hemisphere (arrowhead). e Fluid-attenuated inversion recovery (FLAIR) image shows high signal intensity lesions in the bilateral cerebellar dentate nuclei (arrow). f and g DNA sequence analysis of the GFAP. Arrows indicate c.382G. f Electropherogram of the proband reveals a heterozygous G-to-A substitution at position 382 of the GFAP, which is predicted to substitute asparagine for aspartic acid (p.Asp128Asn). g Representative electropherogram of GFAP sequences in 200 control subjects"}