Dystrophinopathy

Common Name(s)

Dystrophinopathy

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Dystrophinopathy" returned 9 free, full-text research articles on human participants. First 3 results:

Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice.
 

Author(s): Nicolas Wein, Adeline Vulin, Maria S Falzarano, Christina Al-Khalili Szigyarto, Baijayanta Maiti, Andrew Findlay, Kristin N Heller, Mathias Uhlén, Baskar Bakthavachalu, Sonia Messina, Giuseppe Vita, Chiara Passarelli, Francesca Gualandi, Steve D Wilton, Louise R Rodino-Klapac, Lin Yang, Diane M Dunn, Daniel R Schoenberg, Robert B Weiss, Michael T Howard, Alessandra Ferlini, Kevin M Flanigan

Journal: Nat. Med.. 2014 Sep;20(9):992-1000.

 

Most mutations that truncate the reading frame of the DMD gene cause loss of dystrophin expression and lead to Duchenne muscular dystrophy. However, amelioration of disease severity has been shown to result from alternative translation initiation beginning in DMD exon 6 that leads ...

Last Updated: 9 Sep 2014

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Ataluren treatment of patients with nonsense mutation dystrophinopathy.
 

Author(s): Katharine Bushby, Richard Finkel, Brenda Wong, Richard Barohn, Craig Campbell, Giacomo P Comi, Anne M Connolly, John W Day, Kevin M Flanigan, Nathalie Goemans, Kristi J Jones, Eugenio Mercuri, Ros Quinlivan, James B Renfroe, Barry Russman, Monique M Ryan, Mar Tulinius, Thomas Voit, Steven A Moore, H Lee Sweeney, Richard T Abresch, Kim L Coleman, Michelle Eagle, Julaine Florence, Eduard Gappmaier, Allan M Glanzman, Erik Henricson, Jay Barth, Gary L Elfring, Allen Reha, Robert J Spiegel, Michael W O'donnell, Stuart W Peltz, Craig M Mcdonald,

Journal: Muscle Nerve. 2014 Oct;50(4):477-87.

 

Dystrophinopathy is a rare, severe muscle disorder, and nonsense mutations are found in 13% of cases. Ataluren was developed to enable ribosomal readthrough of premature stop codons in nonsense mutation (nm) genetic disorders.

Last Updated: 25 Sep 2014

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Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.
 

Author(s): Jonàs Juan-Mateu, Lidia González-Quereda, Maria José Rodríguez, Edgard Verdura, Kira Lázaro, Cristina Jou, Andrés Nascimento, Cecilia Jiménez-Mallebrera, Jaume Colomer, Soledad Monges, Fabiana Lubieniecki, Maria Eugenia Foncuberta, Samuel Ignacio Pascual-Pascual, Jesús Molano, Montserrat Baiget, Pia Gallano

Journal: PLoS ONE. 2013 ;8(3):e59916.

 

DMD nonsense and frameshift mutations lead to severe Duchenne muscular dystrophy while in-frame mutations lead to milder Becker muscular dystrophy. Exceptions are found in 10% of cases and the production of alternatively spliced transcripts is considered a key modifier of disease ...

Last Updated: 28 Mar 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 "Dystrophinopathy" returned 2 free, full-text review articles on human participants. First 3 results:

Proteomic profiling of the dystrophin-deficient mdx phenocopy of dystrophinopathy-associated cardiomyopathy.
 

Author(s): Ashling Holland, Kay Ohlendieck

Journal: Biomed Res Int. 2014 ;2014():246195.

 

Cardiorespiratory complications are frequent symptoms of Duchenne muscular dystrophy, a neuromuscular disorder caused by primary abnormalities in the dystrophin gene. Loss of cardiac dystrophin initially leads to changes in dystrophin-associated glycoproteins and subsequently triggers ...

Last Updated: 28 Apr 2014

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Dystrophinopathy, the expanding phenotype. Dystrophin abnormalities in X-linked dilated cardiomyopathy.
 

Author(s): A H Beggs

Journal: Circulation. 1997 May;95(10):2344-7.

 

Last Updated: 23 Jun 1997

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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

Evaluation of Muscle miRNA as Biomarkers in Dystrophinopathies
 

Status: Recruiting

Condition Summary: Dystrophinopathies,; Muscular Dystrophies

 

Last Updated: 8 Jan 2015

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Clinical Evaluator Outcomes Reliability Study
 

Status: Recruiting

Condition Summary: Dystrophinopathies

 

Last Updated: 1 Dec 2014

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