Journal
JOURNAL OF COMPUTER ASSISTED TOMOGRAPHY
Volume 27, Issue 1, Pages 44-47Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/00004728-200301000-00009
Keywords
magnetic resonance spectroscopy; creatine; creatine transporter deficiency; CRTR; SLC6A8; X-linked
Ask authors/readers for more resources
An X-linked creatine deficiency syndrome caused by mutations in the creatine transporter gene SLC6A8/CRTR mapped to Xq28 has recently been described. Essential in the recognition of this disorder is the absence of creatine on proton magnetic resonance spectroscopy (MRS) examination. A 9-day-old heterozygous female child with this syndrome demonstrated a significant reduction of creatine on proton MRS. She is a carrier of the R514X nonsense mutation.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available