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.

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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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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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: 30 Nov 2014

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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.

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

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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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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: 30 Nov 2014

View Details

 

General Support Organizations

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General Resources

Patient registry

Registry for people with congenital muscle disorders

Updated 5 Oct 2012

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Patient Registry

A patient registry for people with muscle disorders

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 31 free, full-text research articles on human participants. First 3 results:

Reducing dynamin 2 expression rescues X-linked centronuclear myopathy.
 

Author(s): Belinda S Cowling, Thierry Chevremont, Ivana Prokic, Christine Kretz, Arnaud Ferry, Catherine Coirault, Olga Koutsopoulos, Vincent Laugel, Norma B Romero, Jocelyn Laporte

Journal: J. Clin. Invest.. 2014 Mar;124(3):1350-63.

 

Centronuclear myopathies (CNM) are congenital disorders associated with muscle weakness and abnormally located nuclei in skeletal muscle. An autosomal dominant form of CNM results from mutations in the gene encoding dynamin 2 (DNM2), and loss-of-function mutations in the gene encoding ...

Last Updated: 4 Mar 2014

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Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
 

Author(s): Ozge Ceyhan-Birsoy, Pankaj B Agrawal, Carlos Hidalgo, Klaus Schmitz-Abe, Elizabeth T DeChene, Lindsay C Swanson, Rachel Soemedi, Nasim Vasli, Susan T Iannaccone, Perry B Shieh, Natasha Shur, Jane M Dennison, Michael W Lawlor, Jocelyn Laporte, Kyriacos Markianos, William G Fairbrother, Henk Granzier, Alan H Beggs

Journal: Neurology. 2013 Oct;81(14):1205-14.

 

To identify causative genes for centronuclear myopathies (CNM), a heterogeneous group of rare inherited muscle disorders that often present in infancy or early life with weakness and hypotonia, using next-generation sequencing of whole exomes and genomes.

Last Updated: 1 Oct 2013

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Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.
 

Author(s): Vandana A Gupta, Karim Hnia, Laura L Smith, Stacey R Gundry, Jessica E McIntire, Junko Shimazu, Jessica R Bass, Ethan A Talbot, Leonela Amoasii, Nathaniel E Goldman, Jocelyn Laporte, Alan H Beggs

Journal: PLoS Genet.. 2013 Jun;9(6):e1003583.

 

X-linked myotubular myopathy (XLMTM) is a congenital disorder caused by mutations of the myotubularin gene, MTM1. Myotubularin belongs to a large family of conserved lipid phosphatases that include both catalytically active and inactive myotubularin-related proteins (i.e., "MTMRs"). ...

Last Updated: 2 Jul 2013

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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 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: 28 Jan 2014

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Last Updated: 11 Sep 2014

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A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)
 

Status: Recruiting

Condition Summary: Males With X-linked Myotubular Myopathy (XLMTM)

 

Last Updated: 12 Nov 2014

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