<i>ACTA1</i> ‐Related Adult‐Onset Scapuloperoneal Myopathy With Cores and Rods

20260 citationsJournal Articlehybrid Open Access

Authors

Alexandru Caramizaru · University of Medicine and Pharmacy of Craiova

Marion Onnée · Inserm

S. J. Nikitin · Research Centre for Medical Genetics

A Dobrescu · University of Medicine and Pharmacy of Craiova

Gianmarco Severa · Inserm

Aysylu Murtazina · Research Centre for Medical Genetics

Andoni Urtizberea

Abstract

We report a milder, late-onset, slowly progressive scapuloperoneal myopathy phenotype with cores and rods and cardiac alpha-actin overexpression, thus expanding the spectrum of actinopathies.

Topics & Keywords

Cardiomyopathy and Myosin Studies Heterotopic Ossification and Related Conditions Nuclear Structure and Function

UN Sustainable Development Goals

Gender equality

Publication Details

Published in: Neuropathology and Applied Neurobiology

Volume 52, Issue 2, pp. e70067-e70067

DOI: 10.1111/nan.70067

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