X‐linked creatine deficiency syndrome: A novel mutation in creatine transporter gene SLC6A8
- 23 July 2002
- journal article
- case report
- Published by Wiley in Annals of Neurology
- Vol. 52 (2), 227-231
- https://doi.org/10.1002/ana.10246
Abstract
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.This publication has 14 references indexed in Scilit:
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