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Article

Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation.

American journal of medical genetics. Part A - 1 Aug 2007

Battini Roberta, Chilosi Anna, Mei Davide, Casarano Manuela, Alessandrì M Grazia, Leuzzi Vincenzo, Ferretti Giovanni, Tosetti Michela, Bianchi M Cristina, Cioni Giovanni

Abstract excerpt

We report on a 9.5-year-old Italian boy affected by creatine transporter deficit (CT1), due to a de novo mutation in SLC6A8 gene. The patient was investigated by means of a comprehensive neuropsychological protocol and presented with an unusual alteration of speech and expressive-language function, associated with mental retardation, that differed from CT1 patients described to date. In particular, he exhibited a...

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PMID: 17603797
DOI: 10.1002/ajmg.a.31827

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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