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Article

Novel ACTA1 mutation causes late-presenting nemaline myopathy with unusual dark cores.

Neuromuscular disorders : NMD - 1 Feb 2021

Garibaldi Matteo, Fattori Fabiana, Pennisi Elena Maria, Merlonghi Gioia, Fionda Laura, Vanoli Fiammetta, Leonardi Luca, Bucci Elisabetta, Morino Stefania, Micaloni Andrea, Tartaglione Tommaso, Uijterwijk Bas, Zierikzee Martijn, Ottenheijm Coen, Bertini Enrico Silvio, Stoppacciaro Antonella, Raffa Salvatore, Salvetti Marco, Antonini Giovanni

Abstract excerpt

ACTA1 gene encodes the skeletal muscle alpha-actin, the core of thin filaments of the sarcomere. ACTA1 mutations are responsible of several muscle disorders including nemaline, cores, actin aggregate myopathies and fiber-type disproportion. We report clinical, muscle imaging, histopatological and genetic data of an Italian family carrying a novel ACTA1 mutation. All affected members showed a late-presenting,...

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PMID: 33384202
DOI: 10.1016/j.nmd.2020.11.012

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