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Article

Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy.

The European journal of neuroscience - 1 Aug 2022

Vattemi Gaetano Nicola Alfio, Rossi Daniela, Galli Lucia, Catallo Maria Rosaria, Pancheri Elia, Marchetto Giulia, Cisterna Barbara, Malatesta Manuela, Pierantozzi Enrico, Tonin Paola, Sorrentino Vincenzo

Abstract excerpt

Two likely causative mutations in the RYR1 gene were identified in two patients with myopathy with tubular aggregates, but no evidence of cores or core-like pathology on muscle biopsy. These patients were clinically evaluated and underwent routine laboratory investigations, electrophysiologic tests, muscle biopsy and muscle magnetic resonance imaging (MRI). They reported stiffness of the muscles following...

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Share to Cardiac electrophysiology and arrhythmias
Share to Cardiomyopathy and Myosin Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ion channel regulation and function

Share to Malignant Hyperthermia

Share to Muscle, Skeletal

Share to Mutation

Share to Myopathies, Structural, Congenital

Share to Ryanodine Receptor Calcium Release Channel

Source

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Identifiers

PMID: 35666680
DOI: 10.1111/ejn.15728
PMCID: PMC9539902

Provenance

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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