Article
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Annals of clinical and translational neurology - 1 Mar 2024
Donkervoort Sandra, Mohassel Payam, O'Leary Melanie, Bonner Devon E, Hartley Taila, Acquaye Nicole, Brull Astrid, Mozaffar Tahseen, Saporta Mario A, Dyment David A, Sampson Jacinda B, Pajusalu Sander, Austin-Tse Christina, Hurth Kyle, Cohen Julie S, McWalter Kirsty, Warman-Chardon Jodi, Crunk Amy, Foley A Reghan, Mammen Andrew L, Wheeler Matthew T, O'Donnell-Luria Anne, Bönnemann Carsten G
Abstract excerpt
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...
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