Publication
Title
Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure
Author
Abstract
A Saudi Arabian family presented with adult onset autosomal dominant progressive external ophthalmoplegia (adPEO) complicated by late onset reversible failure of the CNS, respiratory, hepatic, and endocrine systems. Clinical findings were suggestive of mitochondrial dysfunction and multiple mitochondrial DNA deletions were demonstrated on long range and real time polymerase chain reaction assays but not on Southern blotting. The disorder is caused by a novel heterozygous PEO1 mutation predicting a Leu360Gly substitution in the twinkle protein. The peculiar clinical presentation expands the variable phenotype observed in adPEO and Twinkle gene mutations.
Language
English
Source (journal)
Neuromuscular disorders
Publication
2009
ISSN
0960-8966
Volume/pages
19:12(2009), p. 845-848
ISI
000272874600010
Full text (Publisher's DOI)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 19.02.2010
Last edited 12.07.2017
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