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A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency
Creatine transporter (CT) deficiency is an X-linked disorder caused by mutations in the SLC6A8 gene. We describe a clinical, biochemical and molecular examination of a child with X-linked cerebral creatine deficiency. Increased urinary creatine/creatinine ratio, abnormal brain proton magnetic resona...
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| Publicat a: | Hum Genome Var |
|---|---|
| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Nature Publishing Group
2015
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4785581/ https://ncbi.nlm.nih.gov/pubmed/27081545 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.37 |
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