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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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Cervera-Acedo, Cristina, Lopez, Maria, Aguirre-Lamban, Jana, Santibañez, Paula, Garcia-Oguiza, Alberto, Poch-Olive, Maria Luisa, Dominguez-Garrido, Elena
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
Assuntos:
Data Report
Acesso em linha: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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