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Lookup NU author(s): Dr Gavin Hudson,
Professor Robert Taylor,
Professor Patrick Chinnery
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Only four different mutations in the adenine nucleotide translocator 1 (ANT1) gene have been found in families with progressive external ophthalmoplegia (PEO). We report a novel heterozygous C to A transversion at nucleotide 269 in the ANT1 gene in a German family with PEO, predicted to convert a highly conserved alanine at codon 90 to aspartic acid. The mutation was identified in three siblings with PEO, one of them additionally suffered from schizoaffective disorder. Microsatellite analysis showed that the mutation was dominant and inherited from the mother who did not carry the mutation in blood, indicating germ-line mosaicism. © 2005 Elsevier B.V. All rights reserved.
Author(s): Deschauer M, Hudson G, Muller T, Taylor RW, Chinnery PF, Zierz S
Publication type: Article
Publication status: Published
Journal: Neuromuscular Disorders
Print publication date: 01/04/2005
ISSN (print): 0960-8966
ISSN (electronic): 1873-2364
PubMed id: 15792871
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