Distal Myopathy 2 Latest Advances

Find the Latest Research About Distal Myopathy 2

Last Updated: 06/30/2026

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Found 5 publications

A mutant MATR3 mouse model to explain multisystem proteinopathy.

A mutant MATR3 mouse model to explain multisystem proteinopathy.

Journal: The Journal of pathology

Published: November 12, 2018

The p.S85C-mutation in MATR3 impairs stress granule formation in Matrin-3 myopathy.

The p.S85C-mutation in MATR3 impairs stress granule formation in Matrin-3 myopathy.

Journal: Experimental neurology

Published: December 17, 2017

Aberrant O-GlcNAcylation disrupts GNE enzyme activity in GNE myopathy.

Aberrant O-GlcNAcylation disrupts GNE enzyme activity in GNE myopathy.

Journal: The FEBS journal

Published: October 12, 2015

Phenotype of matrin-3-related distal myopathy in 16 German patients.

Phenotype of matrin-3-related distal myopathy in 16 German patients.

Journal: Annals of neurology

Published: June 05, 2014

Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a MATR3 mutation.

Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a MATR3 mutation.

Journal: Neuropathology and applied neurobiology

Published: April 17, 2014

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Last Updated: 06/30/2026