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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure
Neuromuscular Disorders, Volume 19, No. 12, Year 2009
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Description
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. © 2009 Elsevier B.V. All rights reserved.
Authors & Co-Authors
Bohlega, Saeed A.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
van Goethem, Gert
Belgium, Edegem
Universitair Ziekenhuis Antwerpen
Belgium, Wilrijk
Instituut Born-bunge
Belgium, Ghent
Vlaams Instituut Voor Biotechnologie
Al-Semari, Abdulaziz M.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Löfgren, Ann
Belgium, Wilrijk
Instituut Born-bunge
Belgium, Ghent
Vlaams Instituut Voor Biotechnologie
Belgium, Antwerpen
Universiteit Antwerpen
Al-Hamed, Mohamed H.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
van Broeckhoven, Christine L.
Belgium, Wilrijk
Instituut Born-bunge
Belgium, Ghent
Vlaams Instituut Voor Biotechnologie
Belgium, Antwerpen
Universiteit Antwerpen
Kambouris, Marios
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Statistics
Citations: 11
Authors: 7
Affiliations: 5
Identifiers
Doi:
10.1016/j.nmd.2009.10.002
ISSN:
09608966
Research Areas
Cancer
Genetics And Genomics