Vacuolar myopathy

Common Name(s)

Vacuolar myopathy

Description for this condition is not yet available.
 

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Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Vacuolar myopathy" 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 "Vacuolar myopathy" returned 8 free, full-text research articles on human participants. First 3 results:

Novel CLN3 mutation causing autophagic vacuolar myopathy.
 

Author(s): Andrea Cortese, Arianna Tucci, Giovanni Piccolo, Carlo A Galimberti, Pietro Fratta, Enrico Marchioni, Gianpiero Grampa, Cristina Cereda, Gaetano Grieco, Ivana Ricca, Alan Pittman, Patrizia Ciscato, Laura Napoli, Valeria Lucchini, Michela Ripolone, Raffaella Violano, Gigliola Fagiolari, Sara E Mole, John Hardy, Arrigo Moglia, Maurizio Moggio

Journal: Neurology. 2014 Jun;82(23):2072-6.

 

To identify the genetic cause of a complex syndrome characterized by autophagic vacuolar myopathy (AVM), hypertrophic cardiomyopathy, pigmentary retinal degeneration, and epilepsy.

Last Updated: 25 Jun 2014

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Teaching neuroimages: hydroxychloroquine-induced vacuolar myopathy.
 

Author(s): Partha S Ghosh, David Swift, Andrew G Engel

Journal: Neurology. 2013 Jun;80(23):e248-9.

 

Last Updated: 4 Jun 2013

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Defects of Vps15 in skeletal muscles lead to autophagic vacuolar myopathy and lysosomal disease.
 

Author(s): Ivan Nemazanyy, Bert Blaauw, Cecilia Paolini, Catherine Caillaud, Feliciano Protasi, Amelie Mueller, Tassula Proikas-Cezanne, Ryan C Russell, Kun-Liang Guan, Ichizo Nishino, Marco Sandri, Mario Pende, Ganna Panasyuk

Journal: EMBO Mol Med. 2013 Jun;5(6):870-90.

 

The complex of Vacuolar Protein Sorting 34 and 15 (Vps34 and Vps15) has Class III phosphatidylinositol 3-kinase activity and putative roles in nutrient sensing, mammalian Target Of Rapamycin (mTOR) activation by amino acids, cell growth, vesicular trafficking and autophagy. Contrary ...

Last Updated: 5 Jun 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 "Vacuolar myopathy" returned 0 free, full-text review articles on human participants.

 
 
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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

Hereditary Inclusion Body Myopathy-Disease Monitoring (HIBM-DMP): A Combined Registry and Prospective Observational Natural History Study to Assess HIBM Disease
 

Status: Recruiting

Condition Summary: Hereditary Inclusion Body Myopathy; GNE Myopathy; Nonaka Disease; Quadriceps Sparing Myopathy (QSM); Distal Myopathy With Rimmed Vacuoles (DMRV)

 

Last Updated: 11 Sep 2014

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