Recurring Homozygous ACTN2 Variant (p.arg506gly) Causes a Recessive Myopathy.
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. Bonnemann Annals of Clinical and Translational Neurology（2024）
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