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  • Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy
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Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy

Fuente: Wiley Open Access
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Bibliographic Details
Main Authors: 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
Format: Artículo Open Access
Published: Wiley 2024
Subjects:
Annals of Clinical and Translational Neurology
Online Access:
Acceder al recurso
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