Progressive external ophthalmoplegia, autosomal dominant 6
PEO autosomal dominant 6

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Prevalence (%) of clinical parameters based on data from 1 references describing 4 individuals







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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
Muscle weakness skeletal 100 % 23352259 2014-07-28
Myopathy skeletal 100 % 23352259 2014-07-28
COX negative fibres skeletal 100 % 23352259 2014-07-28
Ptosis nervous 75 % 23352259 2014-07-28
Myalgia skeletal 75 % 23352259 2014-07-28
Exercise intolerance multi 50 % 23352259 2014-07-28
Ophthalmoplegia nervous 50 % 23352259 2014-07-28
Psychiatric symptom nervous 50 % 23352259 2014-07-28
Hypotonia skeletal 25 % 23352259 2014-07-28
Ragged red fibres skeletal 25 % 23352259 2014-07-28



List of references:


Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.
Dario Ronchi, Alessio Di Fonzo, Weiqiang Lin, Andreina Bordoni, Changwei Liu, Elisa Fassone, Serena Pagliarani, Mafalda Rizzuti, Li Zheng, Massimiliano Filosto, Maria Teresa Ferrò, Michela Ranieri, Francesca Magri, Lorenzo Peverelli, Hongzhi Li, Yate-Ching Yuan, Stefania Corti, Monica Sciacco, Maurizio Moggio, Nereo Bresolin, Binghui Shen, Giacomo Pietro Comi,



American journal of human genetics - Feb 2013