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Article

Pathological mechanisms of vacuolar aggregate myopathy arising from a Casq1 mutation.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 May 2021

Hanna Amy D, Lee Chang Seok, Babcock Lyle, Wang Hui, Recio Joseph, Hamilton Susan L

Abstract excerpt

Mice with a mutation (D244G, DG) in calsequestrin 1 (CASQ1), analogous to a human mutation in CASQ1 associated with a delayed onset human myopathy (vacuolar aggregate myopathy), display a progressive myopathy characterized by decreased activity, decreased ability of fast twitch muscles to generate force and low body weight after one year of age. The DG mutation causes CASQ1 to partially dissociate from the...

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Identifiers

PMID: 33786938
DOI: 10.1096/fj.202001653RR
PMCID: PMC8138327

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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