A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy

Autor: Lehtokari, Vilma-Lotta, Sagath, Lydia, Davis, Mark, Ho, Desiree, Kiiski, Kirsi, Kettunen, Kaisa, Demczko, Matthew, Stein, Riki, Vatta, Matteo, Winder, Thomas L., Shohet, Adi, Orenstein, Naama, Krcho, Peter, Bohuš, Peter, Huovinen, Sanna, Udd, Bjarne, Pelin, Katarina, Laing, Nigel G., Wallgren-Pettersson, Carina
Zdroj: In Neuromuscular Disorders January 2024 34:32-40
Databáze: ScienceDirect
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