Article
Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.
Annals of clinical and translational neurology - 1 Sept 2024
Ranta-Aho Johanna, Felice Kevin J, Jonson Per Harald, Sarparanta Jaakko, Yvorel Cédric, Harzallah Ines, Touraine Renaud, Pais Lynn, Austin-Tse Christina A, Ganesh Vijay S, O'Leary Melanie C, Rehm Heidi L, Hehir Michael K, Subramony Sub, Wu Qian, Udd Bjarne, Savarese Marco
Abstract excerpt
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 in a new disease gene, ACTN2, have been shown to cause distal myopathy. ACTN2, a gene previously only associated with...
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