Article
A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia.
Neuromuscular disorders : NMD - 1 Sept 2003
Deschauer Marcus, Kiefer Reinhard, Blakely Emma L, He Langping, Zierz Stephan, Turnbull Douglass M, Taylor Robert W
Abstract excerpt
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...
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