Protein‐extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation

Protein‐extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation

Abstract Objective The objective of the study is to characterize the pathomechanisms underlying actininopathies. Distal myopathies are a group of rare, inherited muscular disorders characterized by progressive loss of muscle fibers that begin in the distal parts of arms and legs. Recently, variants...

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Main Authors: Johanna Ranta‐aho, Kevin J. Felice, Per Harald Jonson, Jaakko Sarparanta, Cédric Yvorel, Ines Harzallah, Renaud Touraine, Lynn Pais, Christina A. Austin‐Tse, Vijay S. Ganesh, Melanie C. O'Leary, Heidi L. Rehm, Michael K. Hehir, Sub Subramony, Qian Wu, Bjarne Udd, Marco Savarese
Format: Article
Language:English
Published: Wiley 2024-09-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.52154
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https://doi.org/10.1002/acn3.52154

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