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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.

Among creatine deficiency syndromes, an X-linked condition related to a defective creatine transport into the central nervous system has been described recently. Hallmarks of the disease are the absence of a creatine signal at brain spectroscopy, increased creatine levels in blood and urine, ineffectiveness of oral supplementation, and a mutation in the SLC6A8 (Online Mendelian Inheritance in Man [OMIM] 300036) creatine transporter gene. We report on a patient in whom a novel mutation (1221-1223delTTC) was identified.[1]

References

  1. X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. Bizzi, A., Bugiani, M., Salomons, G.S., Hunneman, D.H., Moroni, I., Estienne, M., Danesi, U., Jakobs, C., Uziel, G. Ann. Neurol. (2002) [Pubmed]
 
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