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Prevalence (%) of clinical parameters based on data from 1 references describing 4 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 |
| Central nuclei in myotubes | skeletal | 100 % | 17676042 | 2013-07-11 | |
| Muscle weakness | skeletal | 100 % | 17676042 | 2013-07-11 | |
| Ptosis | skeletal | 50 % | 17676042 | 2013-07-11 | |
| Contracture | skeletal | 50 % | 17676042 | 2013-07-11 | |
| Ophthalmoplegia | skeletal | 25 % | 17676042 | 2013-07-11 |
List of references:
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.
Anne-Sophie Nicot, Anne Toussaint, Valérie Tosch, Christine Kretz, Carina Wallgren-Pettersson, Erik Iwarsson, Helen Kingston, Jean-Marie Garnier, Valérie Biancalana, Anders Oldfors, Jean-Louis Mandel, Jocelyn Laporte,
Nature genetics - Sep 2007