Article
Two McLeod patients with novel mutations in XK.
Journal of the neurological sciences - 15 Jun 2011
Dubielecka Patrycja M, Hwynn Nelson, Sengun Cenk, Lee Soohee, Lomas-Francis Christine, Singer Carlos, Fernandez Hubert H, Walker Ruth H
Abstract excerpt
McLeod syndrome (MLS) is a rare, X-linked, late-onset, disease involving hematological, brain, and neuromuscular systems, caused by mutations in XK that result in either defective XK or complete loss of XK protein. Acanthocytosis of erythrocytes is a typical feature. We report novel mutations in two patients who exhibited typical clinical characteristics of MLS. The coding and flanking intronic regions of XK were...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.