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

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Bibliographic Details
Title: Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Authors: Donkervoort, Sandra1 (AUTHOR), Mohassel, Payam1 (AUTHOR), O'Leary, Melanie2 (AUTHOR), Bonner, Devon E.3,4 (AUTHOR), Hartley, Taila5 (AUTHOR), Acquaye, Nicole1 (AUTHOR), Brull, Astrid1 (AUTHOR), Mozaffar, Tahseen6,7 (AUTHOR), Saporta, Mario A.8 (AUTHOR), Dyment, David A.5 (AUTHOR), Sampson, Jacinda B.3,9 (AUTHOR), Pajusalu, Sander2,10,11 (AUTHOR), Austin‐Tse, Christina2,12 (AUTHOR), Hurth, Kyle13 (AUTHOR), Cohen, Julie S.14,15 (AUTHOR), McWalter, Kirsty16 (AUTHOR), Warman‐Chardon, Jodi17 (AUTHOR), Crunk, Amy16 (AUTHOR), Foley, A. Reghan1 (AUTHOR), Acosta, Maria T. (AUTHOR)
Source: Annals of Clinical & Translational Neurology. Mar2024, Vol. 11 Issue 3, p629-640. 12p.
Database: Academic Search Ultimate
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Description
ISSN:23289503
DOI:10.1002/acn3.51983