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Article

Tubular Aggregate Myopathies: Genetic Heterogeneity and Diverse Clinical Features Converging on Calcium Dysregulation.

Cells - 1 Apr 2026

Serano Matteo, Fiore Federica, Sorrentino Vincenzo, Rossi Daniela

Abstract excerpt

Tubular aggregate myopathy (TAM) is a rare inherited muscle disorder characterized by the abnormal accumulation of tubular aggregates (TAs) within skeletal muscle fibers. These aggregates, composed of compacted sarcoplasmic reticulum (SR) tubules, are strongly linked to disturbances in calcium (Ca2+) homeostasis. Clinically, TAM manifests with slowly progressive proximal muscle weakness, exercise intolerance,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Heterogeneity

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Share to Myopathies, Structural, Congenital

Source

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Identifiers

PMID: 41972723
DOI: 10.3390/cells15070635
PMCID: PMC13072200

Genes

CASQ1
ORAI1
RYR1
STIM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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