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 12 free, full-text research articles on human participants. First 3 results:

Characterization of Two Human Skeletal Calsequestrin Mutants Implicated in Malignant Hyperthermia and Vacuolar Aggregate Myopathy.
 

Author(s): Kevin M Lewis, Leslie A Ronish, Eduardo Ríos, ChulHee Kang

Journal: J. Biol. Chem.. 2015 Nov;290(48):28665-74.

 

Calsequestrin 1 is the principal Ca(2+) storage protein of the sarcoplasmic reticulum of skeletal muscle. Its inheritable D244G mutation causes a myopathy with vacuolar aggregates, whereas its M87T "variant" is weakly associated with malignant hyperthermia. We characterized the consequences ...

Last Updated: 28 Nov 2015

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Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy.
 

Author(s): Iulia Munteanu, Nivetha Ramachandran, Alessandra Ruggieri, Tomonari Awaya, Ichizo Nishino, Berge A Minassian

Journal: Neurology. 2015 Apr;84(16):1714-6.

 

Last Updated: 22 Apr 2015

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A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.
 

Author(s): Daniela Rossi, Bianca Vezzani, Lucia Galli, Cecilia Paolini, Luana Toniolo, Enrico Pierantozzi, Simone Spinozzi, Virginia Barone, Elena Pegoraro, Luca Bello, Giovanna Cenacchi, Gaetano Vattemi, Giuliano Tomelleri, Giulia Ricci, Gabriele Siciliano, Feliciano Protasi, Carlo Reggiani, Vincenzo Sorrentino

Journal: Hum. Mutat.. 2014 Oct;35(10):1163-70.

 

A missense mutation in the calsequestrin-1 gene (CASQ1) was found in a group of patients with a myopathy characterized by weakness, fatigue, and the presence of large vacuoles containing characteristic inclusions resulting from the aggregation of sarcoplasmic reticulum (SR) proteins. ...

Last Updated: 26 Sep 2014

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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

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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

Status: Recruiting

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

 

Last Updated: 24 Oct 2016

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A Study to Evaluate the Safety of Aceneuramic Acid Extended Release (Ace-ER) Tablets in GNE Myopathy (GNEM) (Also Known as Hereditary Inclusion Body Myopathy (HIBM)) Patients With Severe Ambulatory Impairment
 

Status: Recruiting

Condition Summary: Hereditary Inclusion Body Myopathy; Distal Myopathy With Rimmed Vacuoles; Distal Myopathy, Nonaka Type; GNE Myopathy; Quadriceps Sparing Myopathy; Inclusion Body Myopathy 2

 

Last Updated: 5 Oct 2016

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