Centronuclear myopathy

Common Name(s)

Centronuclear myopathy, Congenital centronuclear myopathy

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Centronuclear myopathy" for support, advocacy or research.

Joshua Frase Foundation

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

Last Updated: 23 May 2016

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Myotubular Myopathy Resource Group

To support and educate families affected by myotubular myopathy and centronuclear myopathy.

Last Updated: 24 Nov 2009

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Team Titin

Team Titin is making a worldwide difference in Titin related muscle and heart disorders by: collaborating with other organizations, raising awareness, providing education, and supporting research. Our goal is to serve as a catalyst for researchers and clinicians to develop a better understanding of Titin related disorders leading ultimately to a cure.

Last Updated: 23 May 2016

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The RYR-1 Foundation

The primary goal of the Foundation is to find a cure for RYR-1 related muscle diseases. To achieve this goal, the Foundation has several missions: 1) Support Research 2) Physician Education 3) Patient/family support and advocacy

Last Updated: 16 Mar 2015

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Centronuclear myopathy" for support, advocacy or research.

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: 23 May 2016

View Details
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Myotubular Myopathy Resource Group

To support and educate families affected by myotubular myopathy and centronuclear myopathy.

http://www.mtmrg.org

Last Updated: 24 Nov 2009

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Team Titin

Team Titin is making a worldwide difference in Titin related muscle and heart disorders by: collaborating with other organizations, raising awareness, providing education, and supporting research. Our goal is to serve as a catalyst for researchers and clinicians to develop a better understanding of Titin related disorders leading ultimately to a cure.

http://titinmyopathy.com/

Last Updated: 23 May 2016

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The RYR-1 Foundation

The primary goal of the Foundation is to find a cure for RYR-1 related muscle diseases. To achieve this goal, the Foundation has several missions: 1) Support Research 2) Physician Education 3) Patient/family support and advocacy

http://www.ryr1.org

Last Updated: 16 Mar 2015

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General Support Organizations

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General Resources

Patient registry

Registry for people with congenital muscle disorders

Uploaded By: Team Titin

Updated 5 Oct 2012

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Patient Registry

A patient registry for people with muscle disorders

Uploaded By: Team Titin

Updated 5 Oct 2012

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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 "Centronuclear myopathy" returned 41 free, full-text research articles on human participants. First 3 results:

Phospholamban overexpression in mice causes a centronuclear myopathy-like phenotype.
 

Author(s): Val A Fajardo, Eric Bombardier, Elliott McMillan, Khanh Tran, Brennan J Wadsworth, Daniel Gamu, Andrew Hopf, Chris Vigna, Ian C Smith, Catherine Bellissimo, Robin N Michel, Mark A Tarnopolsky, Joe Quadrilatero, A Russell Tupling

Journal: Dis Model Mech. 2015 Aug;8(8):999-1009.

 

Centronuclear myopathy (CNM) is a congenital myopathy that is histopathologically characterized by centrally located nuclei, central aggregation of oxidative activity, and type I fiber predominance and hypotrophy. Here, we obtained commercially available mice overexpressing phospholamban ...

Last Updated: 23 Jul 2015

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N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy.
 

Author(s): Sestina Falcone, William Roman, Karim Hnia, Vincent Gache, Nathalie Didier, Jeanne Lainé, Frederic Auradé, Isabelle Marty, Ichizo Nishino, Nicolas Charlet-Berguerand, Norma Beatriz Romero, Giovanna Marazzi, David Sassoon, Jocelyn Laporte, Edgar R Gomes

Journal:

 

Mutations in amphiphysin-2/BIN1, dynamin 2, and myotubularin are associated with centronuclear myopathy (CNM), a muscle disorder characterized by myofibers with atypical central nuclear positioning and abnormal triads. Mis-splicing of amphiphysin-2/BIN1 is also associated with myotonic ...

Last Updated: 4 Nov 2014

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Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.
 

Author(s): Johann Böhm, Valérie Biancalana, Edoardo Malfatti, Nicolas Dondaine, Catherine Koch, Nasim Vasli, Wolfram Kress, Matthias Strittmatter, Ana Lia Taratuto, Hernan Gonorazky, Pascal Laforêt, Thierry Maisonobe, Montse Olivé, Laura Gonzalez-Mera, Michel Fardeau, Nathalie Carrière, Pierre Clavelou, Bruno Eymard, Marc Bitoun, John Rendu, Julien Fauré, Joachim Weis, Jean-Louis Mandel, Norma B Romero, Jocelyn Laporte

Journal: Brain. 2014 Dec;137(Pt 12):3160-70.

 

Centronuclear myopathies are congenital muscle disorders characterized by type I myofibre predominance and an increased number of muscle fibres with nuclear centralization. The severe neonatal X-linked form is due to mutations in MTM1, autosomal recessive centronuclear myopathy with ...

Last Updated: 21 Nov 2014

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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 "Centronuclear myopathy" returned 4 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

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Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature.
 

Author(s): M Jeub, M Bitoun, P Guicheney, K Kappes-Horn, K Strach, K F Druschky, J Weis, D Fischer

Journal: Clin. Neuropathol.. ;27(6):430-8.

 

Centronuclear myopathy (CNM) is a slowly progressive congenital myopathy with characteristic histopathological findings of chains of centrally located myonuclei in a large number of muscle fibers. Recently, different missense mutations in the dynamin 2 gene (DNM2, 19p13.2) have been ...

Last Updated: 9 Jan 2009

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Myotubular/centronuclear myopathy and central core disease.
 

Author(s): Chieko Fujimura-Kiyono, Gabor Z Racz, Ichizo Nishino

Journal: Neurol India. ;56(3):325-32.

 

The term congenital myopathy is applied to muscle disorders presenting with generalized muscle weakness and hypotonia from early infancy with delayed developmental milestones. The congenital myopathies have been classified into various categories based on morphological findings on ...

Last Updated: 31 Oct 2008

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Myotubular Myopathy Genetic Testing Study
 

Status: Recruiting

Condition Summary: Myotubular Myopathy

 

Last Updated: 25 Jul 2016

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Last Updated: 6 Sep 2016

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Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)
 

Status: Recruiting

Condition Summary: X-linked Myotubular Myopathy

 

Last Updated: 19 Apr 2016

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