Multisystemic smooth muscle dysfunction syndrome

Common Name(s)

Multisystemic smooth muscle dysfunction syndrome

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Multisystemic smooth muscle dysfunction syndrome" 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 "Multisystemic smooth muscle dysfunction syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome.
 

Author(s): Hans Ulrik Moller, Hans C Fledelius, Dianna M Milewicz, Ellen S Regalado, John R Ostergaard

Journal: Br J Ophthalmol. 2012 Sep;96(9):1227-31.

 

A de novo mutation of the ACTA2 gene encoding the smooth muscle cell α-actin has been established in patients with multisystemic smooth muscle dysfunction syndrome associated with patent ductus arteriosus and mydriasis present at birth.

Last Updated: 6 Sep 2012

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De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.
 

Author(s): Dianna M Milewicz, John R Østergaard, Leena M Ala-Kokko, Nadia Khan, Dorothy K Grange, Roberto Mendoza-Londono, Timothy J Bradley, Ann Haskins Olney, Lesley Adès, Joseph F Maher, Dongchuan Guo, L Maximilian Buja, Dong Kim, James C Hyland, Ellen S Regalado

Journal: Am. J. Med. Genet. A. 2010 Oct;152A(10):2437-43.

 

Smooth muscle cells (SMCs) contract to perform many physiological functions, including regulation of blood flow and pressure in arteries, contraction of the pupils, peristalsis of the gut, and voiding of the bladder. SMC lineage in these organs is characterized by cellular expression ...

Last Updated: 27 Sep 2010

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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 "Multisystemic smooth muscle dysfunction syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.