1naresh
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Pt/Age/Sex Missense Mutations Exon Nucleotide Change Amino Acid Substitution 1/26/M 6 c.1076T>C p.L359P* 2/36/F 8 c.1178G>T p.S393I* 3/26/M 8 c.1246C>T‡ p.R416W 4/39/F 1 c.209G>A p.R70Q* 5/30/M 3 c.613G>A p.E205K† 6/43/F 1 c.208C>T‡ p.R70W 7/61/M 6 c.994G>A p.E332K 8/58/M 3 c.613G>A p.E205K† 9/52/F 8 c.1193C>A p.S398Y† 10/64/M 1 c.382G>A p.D128N† 11/45/M§ − − −
Note:—GFAP indicates glial fibrillary acidic protein; AOAD, adult-onset Alexander disease.
* Mutations p.L359P,17 p.S393I,18 and p.R70Q19 have been found in these patients for the first time.
† These mutations have not been reported previously.
‡ Molecular data of patients 3 and 6 have been reported previously.19
§ Patient 11 carried no causative mutations but harbored the p.D157N rare polymorphism.