Very Long Time Persistent HyperCKemia as the First Manifestation of McLeod Syndrome: A Case Report
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DOI: 10.1002/mdc3.13502
Abstract: McLeod syndrome (MLS) is a very rare genetic X-linked condition due to XK gene mutations and characterized by the development of chorea, psychiatric and cognitive impairment, seizures, cardiomyopathy, muscular involvement and the presence of acanthocytes.… read more here.
Keywords: time persistent; hyperckemia first; mcleod syndrome; long time ... See more keywords
McLeod syndrome with a novel XK frameshift mutation
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DOI: 10.1097/md.0000000000028996
Abstract: Abstract Rationale: McLeod syndrome (MLS) is a rare X-linked neurohematologic disorder caused by loss-of-function mutations in the XK gene. However, variations in the XK gene remain to be elucidated. Here, we report the clinical phenotype… read more here.
Keywords: mcleod syndrome; frameshift mutation; novel frameshift;