A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia

Autosomal dominant progressive external ophthalmoplegia is a common neurological presentation of mitochondrial disease and is characterised by multiple deletions of mitochondrial DNA in muscle. We describe a family with autosomal dominant progressive external ophthalmoplegia caused by a novel hetero...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2003-09, Vol.13 (7), p.568-572
Main Authors: Deschauer, Marcus, Kiefer, Reinhard, Blakely, Emma L., He, Langping, Zierz, Stephan, Turnbull, Douglass M., Taylor, Robert W.
Format: Article
Language:English
Subjects:
Adult
Aged
Autosomal dominant progressive external ophthalmoplegia
Base Sequence
Blotting, Southern - methods
DNA Helicases
DNA Mutational Analysis
DNA Primase - genetics
DNA-Binding Proteins - genetics
Family Health
Female
Heterozygote
Humans
Lysine - genetics
Male
Middle Aged
Mitochondrial disease
Mitochondrial Proteins
Molecular Biology - methods
Multiple mitochondrial DNA deletions
Muscles - metabolism
Mutation
Novel mutation
Ophthalmoplegia, Chronic Progressive External - etiology
Ophthalmoplegia, Chronic Progressive External - genetics
Pedigree
Polymorphism, Restriction Fragment Length
Reverse Transcriptase Polymerase Chain Reaction - methods
Sequence Alignment
Threonine - genetics
Twinkle gene
Viral Proteins - genetics
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Description
Summary:Autosomal dominant progressive external ophthalmoplegia is a common neurological presentation of mitochondrial disease and is characterised by multiple deletions of mitochondrial DNA in muscle. We describe a family with autosomal dominant progressive external ophthalmoplegia caused by a novel heterozygous A to C transversion at nucleotide 956 of the Twinkle gene. The deltoid muscle biopsy of the index case revealed sparse respiratory deficient cells. Multiple mitochondrial DNA deletions were clearly evident in the index case by both long-range and real-time polymerase chain reaction assays but not by Southern blotting, highlighting the diagnostic difficulties associated with characterising patients with multiple mitochondrial DNA deletions.
ISSN:0960-8966
1873-2364
DOI:10.1016/S0960-8966(03)00071-3