Inclusion body myopathy 3

Common Name(s)

Inclusion body myopathy 3

Proximal myopathy and ophthalmoplegia is a relatively mild muscle disorder characterized by childhood onset of symptoms. The disorder is either slowly progressive or nonprogressive, and affected individuals retain ambulation, although there is variable severity. MYPOP can show both autosomal dominant and autosomal recessive inheritance; the phenotype is similar in both forms (summary by {3:Lossos et al., 2005} and {7:Tajsharghi et al., 2014}).
 

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Condition Specific Organizations

Following organizations serve the condition "Inclusion body myopathy 3" for support, advocacy or research.

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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 "Inclusion body myopathy 3" returned 1 free, full-text research articles on human participants. First 3 results:

Expression of the inclusion body myopathy 3 mutation in Drosophila depresses myosin function and stability and recapitulates muscle inclusions and weakness.
 

Author(s): Yang Wang, Girish C Melkani, Jennifer A Suggs, Anju Melkani, William A Kronert, Anthony Cammarato, Sanford I Bernstein

Journal: Mol. Biol. Cell. 2012 Jun;23(11):2057-65.

 

Hereditary myosin myopathies are characterized by variable clinical features. Inclusion body myopathy 3 (IBM-3) is an autosomal dominant disease associated with a missense mutation (E706K) in the myosin heavy chain IIa gene. Adult patients experience progressive muscle weakness. Biopsies ...

Last Updated: 31 Dec 1969

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The terms "Inclusion body myopathy 3" returned 0 free, full-text review articles on human participants.

 
 
 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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