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A novel point mutation in the McLeod syndrome gene in neuroacanthocytosis.

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.
Publication status:
Published

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Publisher copy:
10.1002/ana.410390518

Authors


Chalmers, RM More by this author
Harding, AE More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
Journal:
Annals of neurology
Volume:
39
Issue:
5
Pages:
672-675
Publication date:
1996-05-05
DOI:
EISSN:
1531-8249
ISSN:
0364-5134
URN:
uuid:72d32521-2858-4438-a300-41789e0b7b5a
Source identifiers:
35910
Local pid:
pubs:35910

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