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Article

McLeod syndrome with a novel XK frameshift mutation: A case report.

Medicine - 11 Mar 2022

Xia Shilin, Yu Xinrui, Song Fan, Sun Bo, Wang Ying

Abstract excerpt

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 and genetic features of a patient with MLS caused by a novel frameshift mutation in the XK gene. PATIENT CONCERNS: A 44-year-old man presented with chorea, cognitive impairment, mental...

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Identifiers

PMID: 35451392
DOI: 10.1097/MD.0000000000028996
PMCID: PMC8913091

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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