Myofibrillar myopathy hallmarks associated with ZAK deficiency

Stonadge, Amy, Genzor, Aitana V, Russell, Alex et al. (6 more authors) (2023) Myofibrillar myopathy hallmarks associated with ZAK deficiency. Human Molecular Genetics. pp. 2751-2770. ISSN 0964-6906

Abstract

Metadata

Item Type: Article
Authors/Creators:
Copyright, Publisher and Additional Information:

© The Author(s) 2023.

Keywords: Animals,Humans,Mice,Adaptor Proteins, Signal Transducing/genetics,Apoptosis Regulatory Proteins/genetics,Filamins/genetics,Muscle, Skeletal/metabolism,Mutation,Myopathies, Structural, Congenital/metabolism,Protein Isoforms/genetics,Zebrafish/genetics,Zebrafish Proteins/genetics
Dates:
  • Published: 1 September 2023
  • Published (online): 10 July 2023
  • Accepted: 6 July 2023
Institution: The University of York
Academic Units: The University of York > Faculty of Sciences (York) > Biology (York)
Depositing User: Pure (York)
Date Deposited: 18 Jan 2024 09:10
Last Modified: 26 Oct 2024 00:08
Published Version: https://doi.org/10.1093/hmg/ddad113
Status: Published
Refereed: Yes
Identification Number: 10.1093/hmg/ddad113
Open Archives Initiative ID (OAI ID):

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Filename: ddad113.pdf

Description: Myofibrillar myopathy hallmarks associated with ZAK deficiency

Licence: CC-BY 2.5

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