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Christopher Haas,
Dana Levin,
Margherita Milone,
Johnené Vardiman-Ditmanson, and
Charles Mathers
Article Category: Research Article
Volume/Issue: Volume 92: Issue 9
Online Publication Date: Sep 01, 2021
Page Range: 734 – 737
McLeod Syndrome (MLS) is a slowly progressive disease characterized by a spectrum of neurological manifestations, cardiac involvement in the form of cardiomyopathy or cardiac arrhythmias, and acanthocytosis.
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The spectrum of clinical features is the result of deletions that affect the XK gene and adjacent genes located on the p21.1 region of the X chromosome.
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Common manifestations of the disease include: elevated creatine kinase (CK) with or without muscle weakness, peripheral neuropathy, chorea, cognitive impairment, and psychiatric symptoms. The