Dystrophinopathy

Common Name(s)

Dystrophinopathy

Description for this condition is not yet available.
 

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Condition Specific 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 "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 7 free, full-text research articles on human participants. First 3 results:

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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Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.
 

Author(s): Jonàs Juan-Mateu, Maria José Rodríguez, Andrés Nascimento, Cecilia Jiménez-Mallebrera, Lidia González-Quereda, Eloy Rivas, Carmen Paradas, Marcos Madruga, Pedro Sánchez-Ayaso, Cristina Jou, Laura González-Mera, Francina Munell, Manuel Roig-Quilis, Maria Rabasa, Aurelio Hernández-Lain, Jorge Díaz-Manera, Eduard Gallardo, Jordi Pascual, Edgard Verdura, Jaume Colomer, Montserrat Baiget, Montse Olivé, Pia Gallano

Journal:

 

Between 8% and 22% of female carriers of DMD mutations exhibit clinical symptoms of variable severity. Development of symptoms in DMD mutation carriers without chromosomal rearrangements has been attributed to skewed X-chromosome inactivation (XCI) favouring predominant expression ...

Last Updated: 8 Nov 2012

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Phenotype-genotype analysis of dystrophinopathy caused by duplication mutation in Dystrophin gene in an African patient.
 

Author(s): L R Peddareddygari, B H Pillai, D Nochlin, L R Sharer, R P Grewal

Journal: Afr Health Sci. 2011 Dec;11(4):607-9.

 

The dystrophinopathies, duchenne muscular dystrophy (DMD) and Becker muscular dystrophy are common X-linked genetic myopathies resulting from mutations in the dystrophin gene. Duplication is an uncommon mechanism of mutation occurring in about 5% of DMD cases. The global prevalence ...

Last Updated: 31 May 2012

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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 1 free, full-text review articles on human participants. First 3 results:

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.

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

Evaluation of Muscle miRNA as Biomarkers in Dystrophinopathies
 

Status: Not yet recruiting

Condition Summary: Dystrophinopathies,; Muscular Dystrophies

 

Last Updated: 7 Apr 2014

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Clinical Evaluator Outcomes Reliability Study
 

Status: Recruiting

Condition Summary: Dystrophinopathies

 

Last Updated: 21 May 2014

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