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Prevalence (%) of clinical parameters based on data from 1 references describing 5 individuals
Add new symptom/sign to this disease
| 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%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| Hypotonia | skeletal | 100 % | 17932957 | 2014-04-30 | |
| Muscle weakness | skeletal | 100 % | 17932957 | 2014-04-30 | |
| Ptosis | nervous | 80 % | 17932957 | 2014-04-30 | |
| Ophthalmoplegia | nervous | 80 % | 17932957 | 2014-04-30 | |
| Contracture | skeletal | 80 % | 17932957 | 2014-04-30 | |
| Hypermobile joints | skeletal | 75 % | 17932957 | 2014-04-30 | |
| Developmental delay | skeletal | 60 % | 17932957 | 2014-04-30 | |
| Pes cavus | skeletal | 40 % | 17932957 | 2014-04-30 | |
| Scoliosis | skeletal | 40 % | 17932957 | 2014-04-30 | |
| Increased blood CK | circulatory | 20 % | 17932957 | 2014-04-30 |
List of references:
Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.
Marc Bitoun, Jorge A Bevilacqua, Bernard Prudhon, Svetlana Maugenre, Ana Lia Taratuto, Soledad Monges, Fabiana Lubieniecki, Claude Cances, Emmanuelle Uro-Coste, Michèle Mayer, Michel Fardeau, Norma B Romero, Pascale Guicheney,
Annals of neurology - Dec 2007