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Article

Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive Ryr1 mutations linked to congenital myopathies.

eLife - 2 Mar 2023

Eckhardt Jan, Ruiz Alexis, Koenig Stéphane, Frieden Maud, Meier Hervé, Schmidt Alexander, Treves Susan, Zorzato Francesco

Abstract excerpt

Skeletal muscles are a highly structured tissue responsible for movement and metabolic regulation, which can be broadly subdivided into fast and slow twitch muscles with each type expressing common as well as specific sets of proteins. Congenital myopathies are a group of muscle diseases leading to a weak muscle phenotype caused by mutations in a number of genes including RYR1. Patients carrying recessive RYR1...

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Identifiers

PMID: 36862731
DOI: 10.7554/eLife.83618
PMCID: PMC10038659

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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