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Article

Ca2+, ROS, IL-6, and p38 MAPK signaling loops underlying alterations in myotube formation induced by a severe MH/CCD mutation in RyR1.

American journal of physiology. Cell physiology - 1 Dec 2025

Valle-Clara Maikel, Ávila Guillermo

Abstract excerpt

Mutations in the gene encoding the skeletal muscle ryanodine receptor (RyR1) can result in muscle diseases, termed RyR1-related myopathies (RyR1-RM). Examples include malignant hyperthermia (MH), central core disease (CCD), and centronuclear myopathy (CNM). The muscles involved often have more (and mispositioned) nuclei than normal. A subset of the corresponding mutant proteins shows an overactive or leaky...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle Fibers, Skeletal

Share to Myopathies, Structural, Congenital

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Identifiers

PMID: 41212187
DOI: 10.1152/ajpcell.00509.2025

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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