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Progressive external ophthalmoplegia, autosomal dominant, 3
PEO autosomal dominant 3

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Prevalence of clinical parameters (%)

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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Ophthalmoplegia nervous 100 % 17620490 2011-10-11
Ptosis nervous 97 % 20479361 2011-10-11
Ophthalmoplegia nervous 94 % 20479361 2011-10-19
Tremor nervous 60 % 17620490 2011-10-10
Parkinsonism nervous 60 % 17620490 2011-10-10
Fatigue skeletal 52 % 20479361 2011-10-05
Cox-negative muscle fibers skeletal 40 % 17620490 2011-10-05
Muscle weakness skeletal 33 % 20479361 2011-10-11
Cardiomyopathy circulatory 24 % 20479361 2011-10-11
Psychiatric symptom nervous 20 % 17620490 2011-10-10
Neuropathy nervous 20 % 17620490 2011-10-10
Dysphagia nervous 12 % 20479361 2011-10-11
Headache nervous 9 % 20479361 2011-10-11
Hearing loss nervous 9 % 20479361 2011-10-11
Cataract nervous 9 % 20479361 2011-10-11

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

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