Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A Saporta, David A Dyment, Jacinda B Sampson, Sander Pajusalu, Christina Austin-Tse, Kyle Hurth, Julie S Cohen, Kirsty McWalter, Jodi Warman-Chardon, Amy Crunk, A Reghan Foley, Andrew L Mammen, Matthew T Wheeler, Anne O'Donnell-Luria, Carsten G Bönnemann
OBJECTIVE: ACTN2, encoding alpha-actinin-2, is essential for cardiac and skeletal muscle sarcomeric function. ACTN2 variants are a known cause of cardiomyopathy without skeletal muscle involvement. Recently, specific dominant monoallelic variants were reported as a rare cause of core myopathy of variable clinical onset, although the pathomechanism remains to be elucidated. The possibility of a recessively inherited ACTN2-myopathy has also been proposed in a single series. METHODS: We provide clinical, imaging, and histological characterization of a series of patients with a novel biallelic ACTN2 variant...
February 4, 2024: Annals of Clinical and Translational Neurology