Autosomal recessive centronuclear myopathy

Common Name(s)

Autosomal recessive centronuclear myopathy, AR CNM, AR Centronuclear myopathy

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Autosomal recessive centronuclear myopathy" for support, advocacy or research.

Centronuclear Myopathy Project

The Centronuclear Myopathy Project is making a worldwide difference in Centronuclear Myopathy by: collaborating with other organizations, raising awareness, providing education, and supporting research.

Last Updated: 24 Sep 2014

View Details
Joshua Frase Foundation

The Joshua Frase Foundation is dedicated to supporting ongoing medical research for myotubular myopathy and other related congenital myopathies.

Last Updated: 24 Sep 2014

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Autosomal recessive centronuclear myopathy" for support, advocacy or research.

Centronuclear Myopathy Project

The Centronuclear Myopathy Project is making a worldwide difference in Centronuclear Myopathy by: collaborating with other organizations, raising awareness, providing education, and supporting research.

http://titinmyopathy.com/

Last Updated: 24 Sep 2014

View Details
Joshua Frase Foundation

The Joshua Frase Foundation is dedicated to supporting ongoing medical research for myotubular myopathy and other related congenital myopathies.

http://www.joshuafrase.org

Last Updated: 24 Sep 2014

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Autosomal recessive centronuclear myopathy" returned 2 free, full-text research articles on human participants. First 3 results:

Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation.
 

Author(s): A Y Mejaddam, I Nennesmo, T Sejersen

Journal: Acta Myol. 2009 Dec;28(3):91-3.

 

Centronuclear myopathy (CNM) is a rare hereditary congenital myopathy characterized by muscular hypotonia and abnormal centralization of nuclei in muscle fibers. The autosomal recessive (AR) form presents from birth to childhood, followed by a mild progression of muscle weakness. ...

Last Updated: 18 May 2010

Go To URL
[Mutations in amphiphysin 2 (BIN1) cause autosomal recessive centronuclear myopathy].
 

Author(s): Anne Toussaint, Anne-Sophie Nicot, Jean-Louis Mandel, Jocelyn Laporte

Journal: Med Sci (Paris). 2007 Dec;23(12):1080-2.

 

Last Updated: 24 Dec 2007

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Autosomal recessive centronuclear myopathy" returned 1 free, full-text review articles on human participants. First 3 results:

Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation.
 

Author(s): Johann Böhm, Uluç Yiş, Ragıp Ortaç, Handan Cakmakçı, Semra Hız Kurul, Eray Dirik, Jocelyn Laporte

Journal:

 

Centronuclear myopathies (CNM) describe a group of rare muscle diseases typically presenting an abnormal positioning of nuclei in muscle fibers. To date, three genes are known to be associated to a classical CNM phenotype. The X-linked neonatal form (XLCNM) is due to mutations in ...

Last Updated: 5 Jan 2011

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.