Characterization of novel CASQ1 variants in two families with unusual phenotypic features.

Abstract excerpt

BACKGROUND: Variants in CASQ1, encoding a calcium-binding protein in the fast-twitch fibers of skeletal muscle, cause sarcoplasmic reticulum aberrations such as large vacuoles with CASQ1 inclusions or, less commonly, tubular aggregates. To date, seven pathogenic variants have been described, all dominant missense variants. The typical symptoms of the disease include muscle weakness, cramps, myalgia, and fatigue....

Topics

• Humans
• Female
• Male
• Pedigree
• Adult
• Phenotype