Centronuclear myopathy 2

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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
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