Article
A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy.
Neuromuscular disorders : NMD - 1 Jan 2024
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
Abstract excerpt
We describe three patients with asymmetric congenital myopathy without definite nemaline bodies and one patient with severe nemaline myopathy. In all four patients, the phenotype had been caused by pathogenic missense variants in ACTA1 leading to the same amino acid change, p.(Gly247Arg). The three patients with milder myopathy were mosaic for their variants. In contrast, in the severely affected patient, the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.