Ying Tan

Case Report: McLeod syndrome caused by a nonsense variant c.484C > T (p.Gln162Ter) in the XK gene in a Chinese Han family

McLeod syndrome (MLS) is a rare X-linked neuroacanthocytosis caused by pathogenic variants in XK , and is characterized by hyperkinetic movements, peripheral neuropathy and myopathy with hyperCKemia, acanthocytosis and cardiomyopathy. Here, we report a mainland Chinese Han family with McLeod syndrome carrying t...