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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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

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

SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
 

Author(s): Pankaj B Agrawal, Christopher R Pierson, Mugdha Joshi, Xiaoli Liu, Gianina Ravenscroft, Behzad Moghadaszadeh, Tiffany Talabere, Marissa Viola, Lindsay C Swanson, Göknur Haliloğlu, Beril Talim, Kyle S Yau, Richard J N Allcock, Nigel G Laing, Mark A Perrella, Alan H Beggs

Journal: Am. J. Hum. Genet.. 2014 Aug;95(2):218-26.

 

Centronuclear myopathies (CNMs) are characterized by muscle weakness and increased numbers of central nuclei within myofibers. X-linked myotubular myopathy, the most common severe form of CNM, is caused by mutations in MTM1, encoding myotubularin (MTM1), a lipid phosphatase. To increase ...

Last Updated: 9 Aug 2014

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Mutations in BIN1 associated with centronuclear myopathy disrupt membrane remodeling by affecting protein density and oligomerization.
 

Author(s): Tingting Wu, Zheng Shi, Tobias Baumgart

Journal:

 

The regulation of membrane shapes is central to many cellular phenomena. Bin/Amphiphysin/Rvs (BAR) domain-containing proteins are key players for membrane remodeling during endocytosis, cell migration, and endosomal sorting. BIN1, which contains an N-BAR domain, is assumed to be essential ...

Last Updated: 23 Apr 2014

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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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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: 3 Feb 2015

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Last Updated: 11 Sep 2014

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Congenital Muscle Disease Study of Patient and Family Reported Medical Information
 

Status: Recruiting

Condition Summary: Muscular Dystrophy; Congenital Muscular Dystrophy; Fukutin-related Protein Gene; Limb Girdle; FKRP Gene; Childhood Onset LGMD; Adult Onset LGMD; POMT1; POMT2; POMGnT1; LARGE; Alpha Dystroglycan; Dystroglycanopathy; Centronuclear; Multiminicore; Multicore; Minicore; Congenital Fiber Type Disproportion; Myotubular; Nemaline; Congenital Myopathy; Neuromuscular; Rigid Spine; Phenotype-Genotype Correlation; Cough Assisted Device; Neuromuscular Disease; Respiratory Exacerbation; Invasive Ventilation; Chest Physiotherapy; Congenital Myopathies; Genetic Mutations; Hypertrophic Cardiomyopathy; Wheelchair Use; Cataract; Opthalmoplegia; Ullrich Congenital Muscular Dystrophy; Intermediate Collagen VI Myopathy; Laminin Alpha 2 Related Congenital Muscular Dystrophy; MDC1A; Merosin Deficient Congenital Muscular Dystrophy; Congenital Muscular Dystrophy Undiagnosed; Congenital Muscular Dystrophy Merosin Positive; Walker Warburg Syndrome; Muscle Eye Brain Disease; Fukuyama; Integrin Alpha 7 Deficiency; Integrin Alpha 9 Deficiency; Laminopathy; Lamin AC; SEPN 1 Related Myopathies; Bethlem Myopathy; Dystroglycanopathies; LGMD2K; LGMD2I; LGMD2L; LGMD2N; Actin Aggregation Myopathy; Cap Disease; Central Core Disease; Centronuclear Myopathy; Core Rod Myopathy; Hyaline Body Myopathy; Multiminicore Myopathy; Myotubular Myopathy; Nemaline Myopathy; Tubular Aggregate Myopathy; Zebra Body Disease Myopathy; Congenital Myopathy Other; Reducing Body Myopathy; Sarcotubular Myopathy; Spheroid Body Myopathy

 

Last Updated: 3 Feb 2015

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