Phenotypic variability in a portuguese family with x-linked creatine transport deficiency.


Cerebral creatine transporter deficiency, attributable to mutations in the SLC6A8 gene, causes X-linked mental retardation, language delay, epilepsy, and autistic features. In contrast with creatine synthesis defects, the vast majority of patients with SLC6A8 deficiency do not respond to treatment. We describe a Portuguese family with a mutation (c.456C>T… (More)
DOI: 10.1016/j.pediatrneurol.2011.10.005


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