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

Journal article

Open access

Peer reviewed

S. Donkervoort, P. Mohassel, M. O'Leary, T. Hartley, T. Mozaffar, M. Saporta, D. Dyment, C. Austin-Tse, S. Verma, K. Hurth, …

Neuromuscular disorders : NMD, Vol.32, p.S110

2022-10

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https://doi.org/10.1016/j.nmd.2022.07.283View

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Title: P.155 Recurring homozygous ACTN2 variant (p.Arg506Gly) cause a recessive, adult-onset myofibrillar myopathy
Creators: S. Donkervoort
P. Mohassel
M. O'Leary
T. Hartley
T. Mozaffar
M. Saporta
D. Dyment
C. Austin-Tse
S. Verma
K. Hurth
J. Warman-Chardon
A. O'Donnell-Luria
C. Bönnemann
Publication Details: Neuromuscular disorders : NMD, Vol.32, p.S110
Academic Unit: Miller School of Medicine; UMMG Department of Neurology; UMMG Dept of Neurology - Neuromuscular Disorders Div
Language: English
Resource Type: Journal article
Record Identifier: 991031786610802976