A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females

X-linked creatine transport (CRTR) deficiency, caused by mutations in the SLC6A8 gene, leads to intellectual disability, speech delay, epilepsy, and autistic behavior in hemizygous males. Additional diagnostic features are depleted brain creatine levels and increased creatine/creatinine ratio (cr/cr...

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Main Authors: Dreha-Kulaczewski, S., Kalscheuer, V., Tzschach, A., Hu, H., Helms, G., Brockmann, K., Weddige, A., Dechent, P., Schlüter, G., Krätzner, R., Ropers, H.-H., Gärtner, J., Zirn, B.
Format: Artigo
Language:Inglês
Published: Springer Berlin Heidelberg 2013
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4110338/
https://ncbi.nlm.nih.gov/pubmed/24190795
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2013_261
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