Autosomal dominant centronuclear myopathy

Common Name(s)

Autosomal dominant centronuclear myopathy, AD centronuclear myopathy, AD CNM

Autosomal dominant centronuclear myopathy is a congenital myopathy characterized by slowly progressive muscular weakness and wasting ({4:Bitoun et al., 2005}). The disorder involves mainly limb girdle, trunk, and neck muscles but may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life, and some affected individuals become wheelchair-bound in their fifties. Ptosis and limitation of eye movements occur frequently. The most prominent histopathologic features include high frequency of centrally located nuclei in a large number of extrafusal muscle fibers (which is the basis of the name of the disorder), radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. Genetic Heterogeneity of Centronuclear Myopathy Centronuclear myopathy is a genetically heterogeneous disorder. See also X-linked CNM (CNMX; {310400}), caused by mutation in the MTM1 gene ({300415}) on chromosome Xq28; CNM2 ({255200}), caused by mutation in the BIN1 gene ({601248}) on chromosome 2q14; CNM3 ({614408}), caused by mutation in the MYF6 gene ({159991}) on chromosome 12q21; CNM4 ({614807}), caused by mutation in the CCDC78 gene ({614666}) on chromosome 16p13; and CNM5 ({615959}), caused by mutation in the SPEG gene ({615950}) on chromosome 2q36. In addition, some patients with mutation in the RYR1 gene ({180901}) have findings of centronuclear myopathy on skeletal muscle biopsy (see {255320}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Autosomal dominant 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

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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

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Autosomal dominant 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

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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

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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 dominant centronuclear myopathy" returned 2 free, full-text research articles on human participants. First 3 results:

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
 

Author(s): Johann Böhm, Valérie Biancalana, Elizabeth T Dechene, Marc Bitoun, Christopher R Pierson, Elise Schaefer, Hatice Karasoy, Melissa A Dempsey, Fabrice Klein, Nicolas Dondaine, Christine Kretz, Nicolas Haumesser, Claire Poirson, Anne Toussaint, Rebecca S Greenleaf, Melissa A Barger, Lane J Mahoney, Peter B Kang, Edmar Zanoteli, John Vissing, Nanna Witting, Andoni Echaniz-Laguna, Carina Wallgren-Pettersson, James Dowling, Luciano Merlini, Anders Oldfors, Lilian Bomme Ousager, Judith Melki, Amanda Krause, Christina Jern, Acary S B Oliveira, Florence Petit, Aurélia Jacquette, Annabelle Chaussenot, David Mowat, Bruno Leheup, Michele Cristofano, Juan José Poza Aldea, Fabrice Michel, Alain Furby, Jose E Barcena Llona, Rudy Van Coster, Enrico Bertini, Jon Andoni Urtizberea, Valérie Drouin-Garraud, Christophe Béroud, Bernard Prudhon, Melanie Bedford, Katherine Mathews, Lori A H Erby, Stephen A Smith, Jennifer Roggenbuck, Carol A Crowe, Allison Brennan Spitale, Sheila C Johal, Anthony A Amato, Laurie A Demmer, Jessica Jonas, Basil T Darras, Thomas D Bird, Mercy Laurino, Selman I Welt, Cynthia Trotter, Pascale Guicheney, Soma Das, Jean-Louis Mandel, Alan H Beggs, Jocelyn Laporte

Journal: Hum. Mutat.. 2012 Jun;33(6):949-59.

 

Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized nuclei. Autosomal dominant CNM is due to mutations in the large GTPase dynamin 2 (DNM2), a mechanochemical ...

Last Updated: 9 May 2012

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Autosomal dominant centronuclear myopathy with unique clinical presentations.
 

Author(s): Jee Young Lee, Ju Hong Min, Yoon Ho Hong, Jung Joon Sung, Sung Hye Park, Seong Ho Park, Kwang Woo Lee, Kyung Seok Park

Journal: J. Korean Med. Sci.. 2007 Dec;22(6):1098-101.

 

Centronuclear myopathies are clinically and genetically heterogenous diseases with common histological findings, namely, centrally located nuclei in muscle fibers with a predominance and hypotrophy of type 1 fibers. We describe two cases from one family with autosomal dominant centronuclear ...

Last Updated: 28 Dec 2007

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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 dominant centronuclear myopathy" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.