Protein‐extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation
Johanna Ranta‐aho,
Kevin J. Felice,
Per Harald Jonson
et al.
Abstract:ObjectiveThe 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 in a new disease gene, ACTN2, have been shown to cause distal myopathy. ACTN2, a gene previously only associated with cardiomyopathies, encodes alpha‐actinin‐2, a protein expressed in both cardiac and skeletal sarcomeres. The … Show more
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