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Article

Abnormal myosin post-translational modifications and ATP turnover time associated with human congenital myopathy-related RYR1 mutations.

Acta physiologica (Oxford, England) - 1 Oct 2023

Sonne Alexander, Antonovic Anna Katarina, Melhedegaard Elise, Akter Fariha, Andersen Jesper L, Jungbluth Heinz, Witting Nanna, Vissing John, Zanoteli Edmar, Fornili Arianna, Ochala Julien

Abstract excerpt

AIM: Conditions related to mutations in the gene encoding the skeletal muscle ryanodine receptor 1 (RYR1) are genetic muscle disorders and include congenital myopathies with permanent weakness, as well as episodic phenotypes such as rhabdomyolysis/myalgia. Although RYR1 dysfunction is the primary mechanism in RYR1-related disorders, other downstream pathogenic events are less well understood and may include a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37602753
DOI: 10.1111/apha.14035
PMCID: PMC10909445

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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