Pseudomyotonia

Common Name(s)

Pseudomyotonia

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pseudomyotonia" 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 "Pseudomyotonia" returned 2 free, full-text research articles on human participants. First 3 results:

Inhibition of ubiquitin proteasome system rescues the defective sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA1) protein causing Chianina cattle pseudomyotonia.
 

Author(s): Elisa Bianchini, Stefania Testoni, Arcangelo Gentile, Tito Calì, Denis Ottolini, Antonello Villa, Marisa Brini, Romeo Betto, Francesco Mascarello, Poul Nissen, Dorianna Sandonà, Roberta Sacchetto

Journal: J. Biol. Chem.. 2014 Nov;289(48):33073-82.

 

A missense mutation in ATP2A1 gene, encoding sarco(endo)plasmic reticulum Ca(2+)-ATPase (SERCA1) protein, causes Chianina cattle congenital pseudomyotonia, an exercise-induced impairment of muscle relaxation. Skeletal muscles of affected cattle are characterized by a selective reduction ...

Last Updated: 31 Dec 1969

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Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease.
 

Author(s): Cord Drögemüller, Michaela Drögemüller, Tosso Leeb, Francesco Mascarello, Stefania Testoni, Marco Rossi, Arcangelo Gentile, Ernesto Damiani, Roberta Sacchetto

Journal: Genomics. 2008 Dec;92(6):474-7.

 

Congenital pseudomyotonia in Chianina cattle is a muscle function disorder very similar to that of Brody disease in humans. Mutations in the human ATP2A1 gene, encoding SERCA1, cause Brody myopathy. The analysis of the collected Chianina pedigree data suggested monogenic autosomal ...

Last Updated: 31 Dec 1969

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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 "Pseudomyotonia" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.