A novel point mutation in the mcleod syndrome gene in neuroacanthocytosis
- 1 May 1996
- journal article
- research article
- Published by Wiley in Annals of Neurology
- Vol. 39 (5) , 672-675
- https://doi.org/10.1002/ana.410390518
Abstract
McLeod syndrome is an X-linked recessive disorder, characterized by neuromuscular and hematopoietic dysfunction. Two cases of McLeod syndrome were reported in a family with neuroacanthocytosis and, remarkably, 1 of them was female. Direct sequence analysis of the McLeod gene in 12 members of the family revealed a novel point mutation in exon 2 that creates a frameshift and results in premature termination of translation. There was marked skewing of X inactivation in the severely affected female.Keywords
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