Warning: simplexml_load_file(http://api.omim.org/api/entry?mimNumber=609286&include=text:description&apiKey=nF1Y-SFBSLOjxS6VQpq65A): failed to open stream: HTTP request failed! HTTP/1.1 400 in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 485 Warning: simplexml_load_file(): I/O warning : failed to load external entity "http://api.omim.org/api/entry?mimNumber=609286&include=text:description&apiKey=nF1Y-SFBSLOjxS6VQpq65A" in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 485
We were unfortunately unable to download the information for this disease from OMIM.
Prevalence of clinical parameters (%)
Add new symptom/sign to this disease
List of symptoms
List of references:
Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle.
Robert H Baloh, Ezequiel Salavaggione, Jeffrey Milbrandt, Alan Pestronk,
To describe the clinical phenotype and genetic basis of a family with autosomal dominant progressive external ophthalmoplegia and parkinsonism from a Twinkle mutation.
Archives of neurology - Jul 2007
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.
C Fratter, G S Gorman, J D Stewart, M Buddles, C Smith, J Evans, A Seller, J Poulton, M Roberts, M G Hanna, S Rahman, S E Omer, T Klopstock, B Schoser, C Kornblum, B Czermin, B Lecky, E L Blakely, K Craig, P F Chinnery, D M Turnbull, R Horvath, R W Taylor,
Mutations in the Twinkle (PEO1) gene are a recognized cause of autosomal dominant progressive external ophthalmoplegia (adPEO), resulting in the accumulation of multiple mitochondrial DNA (mtDNA) deletions and cytochrome c oxidase (COX)-deficient fibers in skeletal muscle secondary to a disorder of mtDNA maintenance. Patients typically present with isolated extraocular muscle involvement, with little apparent evidence of the clinical heterogeneity documented in other mtDNA maintenance disorders, in particular POLG-related disease.
Neurology - May 2010
Warning: Use of undefined constant jump - assumed 'jump' (this will throw an Error in a future version of PHP) in /customers/0/2/d/mitodb.com/httpd.www/symptoms.php on line 715