A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Releas...
A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release
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Author / Creator
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 and Pessia, Mauro
Publisher
United States: Public Library of Science
Journal title
Language
English
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Publisher
United States: Public Library of Science
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Scope and Contents
Contents
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 sar...
Alternative Titles
Full title
A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release
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Record Identifier
TN_cdi_plos_journals_1790062107
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1790062107
Other Identifiers
ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0155516
