[Glial fibrillary acidic protein mutation in a Chinese girl with infantile Alexander disease].

To investigate the molecular basis of infantile Alexander disease in a Chinese patient, which may yield useful information for further genetic counseling.DNA sequencing analysis and restriction endonuclease analysis were used to detect the mutation of glial fibrillary acidic protein (GFAP) gene in a patient with clinically diagnosed Alexander disease, in her parents and in 50 healthy controls.A 249C>T (R79C) mutation was identified in the exon 1...