McLeod syndrome

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McLeod syndrome2016-09-08T12:24:14+00:00

McLeod syndrome 

HAEMATOLOGY, NEUROLOGY

An X-linked multisystem disorder (OMIM:300842) characterised by late onset neuromuscular and haematopoietic defects.

Molecular pathology Defects of XK, which encodes a multipass membrane protein thought to play a role in sodium-dependent transport of neutral amino acids or oligopeptides, cause McLeod syndrome. 

Synonyms McLeod phenotype, McLeod syndrome with chronic granulomatous disease, MLS, neuroacanthocytosis—McLeod type 

References http://www.uniprot.org/uniprot/P51811

http://www.omim.org/entry/300842

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