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Article

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

PloS one - 1 Jan 2016

D'Adamo Maria Cristina, Sforna Luigi, Visentin Sergio, Grottesi Alessandro, Servettini Llenio, Guglielmi Luca, Macchioni Lara, Saredi Simona, Curcio Maurizio, De Nuccio Chiara, Hasan Sonia, Corazzi Lanfranco, Franciolini Fabio, Mora Marina, Catacuzzeno Luigi, Pessia Mauro

Abstract excerpt

An autosomal dominant protein aggregate myopathy, characterized by high plasma creatine kinase and calsequestrin-1 (CASQ1) accumulation in skeletal muscle, has been recently associated with a missense mutation in CASQ1 gene. The mutation replaces an evolutionarily-conserved aspartic acid with glycine at position 244 (p.D244G) of CASQ1, the main sarcoplasmic reticulum (SR) Ca2+ binding and storage protein...

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Identifiers

PMID: 27196359
DOI: 10.1371/journal.pone.0155516
PMCID: PMC4873205

Genes

CASQ1

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A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release.PMID 27196359Read ↗

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