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Article

Vacuolar myopathy caused by CASQ1 p.Asp244His: pathogenic evidence from two unrelated Chinese families.

Journal of human genetics - 1 Jul 2026

Xia Xingyu, Laarne Milla, Pan Tonglin, Jiao Kexin, Cheng Nachuan, Zhu Bochen, Diao Meining, Gao Mingshi, Liu Ying, Zhao Chongbo, Zhao Zhe, Zhu Wenhua

Abstract excerpt

Calsequestrin-1 (CASQ1)-related myopathy is a rare skeletal muscle disorder caused by mutations in CASQ1 gene, which encodes a major calcium-buffering protein of the sarcoplasmic reticulum (SR). It is characterized histopathologically by tubular aggregates or optically empty vacuoles, predominantly affecting type II muscle fibers. In this study, we report two unrelated Chinese patients presenting with late-onset,...

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Identifiers

PMID: 41699400
DOI: 10.1038/s10038-026-01461-2

Genes

CASQ1
SQSTM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Vacuolar myopathy caused by CASQ1 p.Asp244His: pathogenic evidence from two unrelated Chinese families.PMID 41699400Read ↗

A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release.Semantic proximity Read ↗

A Mutation in the <i>CASQ1</i> Gene Causes a Vacuolar Myopathy with Accumulation of Sarcoplasmic Reticulum Protein AggregatesSemantic proximity Read ↗

[Identification of a novel variant in a patient with Calsequestrin 1 related myopathy].Semantic proximity Read ↗

Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.Semantic proximity Read ↗

Pathological mechanisms of vacuolar aggregate myopathy arising from a Casq1 mutation.Semantic proximity Read ↗

TAM-associated CASQ1 mutants diminish intracellular Ca2+ content and interfere with regulation of SOCE.Semantic proximity Read ↗

CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy.Semantic proximity Read ↗

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