Article
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis.
Brain : a journal of neurology - 1 May 2000
Verrips A, Hoefsloot L H, Steenbergen G C, Theelen J P, Wevers R A, Gabreëls F J, van Engelen B G, van den Heuvel L P
Abstract excerpt
Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease caused by a deficiency of the mitochondrial enzyme 27-sterol hydroxylase (CYP 27), due to mutations in its gene. In this study we report on mutations in 58 patients with CTX out of 32 unrelated families. Eight of these were novel mutations, two of which were found together with two already known pathogenic mutations. Twelve mutations found in this...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.