Article
Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies.
American journal of human genetics - 5 Feb 2026
Di Donato Nataliya, Thom Andrew, Rump Andreas, Greve Johannes N, Cadiñanos Juan, Calabrò Rocco Salvatore, Cathey Sara, Chung Brian, Cope Heidi, Costales Maria, Cuvertino Sara, Dinkel Philine, Erripi Kalliopi, Fry Andrew E, Garavelli Livia, Hoffjan Sabine, Janzarik Wibke G, Kreimer Insa, Mancini Grazia, Marin-Reina Purificacion, Meinhardt Andrea, Niehaus Indra, Pilz Daniela, Ricca Ivana, Simarro Fernando Santos, Schrock Evelin, Marquardt Anja, Taft Manuel H, Tezcan Kamer, Thunström Sofia, Verhagen Judith, Verloes Alain, Wollnik Bernd, Krawitz Peter, Hsieh Tzung-Chien, Seifert Michael, Heide Michael, Lawrence Catherine B, Roberts Neil A, Manstein Dietmar J, Woolf Adrian S, Banka Siddharth
Abstract excerpt
Recent advances in Mendelian genomics reveal the importance of variant-level characterization of allelic disorders. Non-muscle actin isoforms, encoded by the genes ACTB and ACTG1, are the most abundant intracellular proteins, but historically, they are often regarded as merely being "housekeeping" molecules. Here, we illuminate the extraordinary clinical heterogeneity and complex pathobiology of genetic...
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