The toxic effect of R350P mutant desmin in striated muscle of man and mouse
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Title
The toxic effect of R350P mutant desmin in striated muscle of man and mouse
Authors
Keywords
Desminopathy, R350P desmin missense mutation, Desmin knock-in mouse, Mouse model, Mutant desmin, Intermediate filament, Extrasarcomeric intermediate filament network, Mechanical vulnerability, Protein aggregation myopathy, Skeletal muscle weakness, Protein aggregation cardiomyopathy, Cardiac arrhythmia, Cardiac conduction defect
Journal
ACTA NEUROPATHOLOGICA
Volume 129, Issue 2, Pages 297-315
Publisher
Springer Nature
Online
2014-11-14
DOI
10.1007/s00401-014-1363-2
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