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P.155 Recurring homozygous ACTN2 variant (p.Arg506Gly) cause a recessive, adult-onset myofibrillar myopathy

Document Type

Abstract

Author

Donkervoort, S.; Mohassel, P.; O'Leary, M.; Hartley, T.; Mozaffar, T.; Saporta, M.; Dyment, D.; Austin-Tse, C.; Verma, S.; Hurth, K.; Warman-Chardon, J.; O'Donnell-Luria, A.; Bönnemann, C.

Source

In Neuromuscular Disorders October 2022 32 Supplement 1:S110-S110

Subject

Language

ISSN

0960-8966

Online Access

Full Text (ScienceDirect 종량제) Full Text (Clinical Key) Web of Science JCR 저널정보 Scopus Find it@PNU

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